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What is it? Lymphoma is the most common haematological malignancy (malignant tumours of blood cells) and the third most common cancer in children. It is a cancer of the lymphatic system and develops when an error occurs during the production of lymphocytes, leading to the production of abnormal cells. These cells can proliferate in two ways: by dividing more rapidly than normal lymphocytes or by living longer than them. Like healthy lymphocytes, cancerous lymphocytes develop in various parts of the body, including the lymph nodes, spleen, bone marrow and other organs. There are two main types of cancer of the lymphatic system: Hodgkin lymphoma (Hodgkin’s disease) and non-Hodgkin lymphoma (NHL). Symptoms Signs and symptoms are all the disorders observed and reported by the patient that may be related to the disease. For example, swollen lymph nodes, whether painful or not, are a common sign of lymphoma. Lymph nodes are generally swollen in the neck or armpits, but many patients may also have swollen lymph nodes in other parts of the body, causing various symptoms. Thus, swollen lymph nodes in the groin may cause heavy legs and swollen ankles, while swollen lymph nodes in the abdomen may cause abdominal discomfort, back pain or bloating. The signs of extranodal lymphoma may vary depending on the part of the body where the tumour develops. This is why lymphoma in the stomach may sometimes cause symptoms similar to those of an ulcer, such as pain and internal bleeding. More rarely, some patients with lymphoma may not have swollen lymph nodes. Certain unusual symptoms observed by the patient may also indicate the possible presence of the disease. The symptoms of lymphoma most often include chills, fever, profuse sweating (often at night), unexplained weight loss, reduced energy, itching or other symptoms caused by swollen lymph nodes. These symptoms are not specific, and most people who experience them do not have lymphoma. However, in the case of persistent symptoms, it is important to consult a doctor to make sure that lymphoma is not present. Serious diseases do not disappear overnight; they persist. Types Non-Hodgkin lymphomas NHL is not a single disease but rather a group of at least 30 closely related cancers that affect the lymphatic system. Although the different forms of NHL have features in common, particularly their lymphatic origin, they differ in their appearance under the microscope, their molecular characteristics, their growth pattern and their impact on the body. NHLs are divided into two main subtypes: B-cell lymphomas (which develop from abnormal B lymphocytes) T-cell lymphomas (which develop from abnormal T lymphocytes). The exact causes of NHL are unknown. Doctors are often unable to explain why one person develops NHL while another does not. What is known is that lymphomas are not caused by an accident and cannot be contracted through contact with someone who has the disease. Hodgkin lymphomas Hodgkin’s disease (sometimes called Hodgkin lymphoma) accounts for 15% of all lymphomas and 1% of all cancers. It occurs in approximately 3 or 4 people per 100,000 each year. This rate has not changed for several decades. It most commonly affects adolescents or young adults (aged 15 to 35) or people aged between 45 and 50. Hodgkin’s disease is one of the cancers with the highest cure rates: a cure can be achieved in more than 80% of cases through radiotherapy, chemotherapy or a combination of these two treatments. Although the cause of Hodgkin’s disease remains unknown, environmental and genetic factors, as well as infectious agents, may be involved in its development. In both Hodgkin’s disease and non-Hodgkin lymphoma, several aspects of the tumour need to be assessed before determining the best treatment option. The overall prognosis is good because the vast majority of patients can be cured. However, it depends on various factors: the patient’s age, the extent of the disease, the impact of the disease on the patient’s general health (general symptoms, inflammation), the size of the tumour mass and, above all, the response to initial treatment. Treatment Lymphoma is one of the diseases that can be treated effectively, and patients can be cured through modern treatments such as chemotherapy, radiotherapy and immunotherapy. The response to treatment of the different types of lymphoma depends on the type and stage of the lymphoma, as well as on a number of other factors. For example, localised diffuse large B-cell lymphoma, which accounts for one-third of cases of this type of large B-cell lymphoma, can be cured in 80% of cases. Extensive follicular lymphoma is more difficult to cure but remains compatible with prolonged survival. Many patients treated for NHL receive chemotherapy, radiotherapy or biological therapy, or a combination of all these treatments. An autologous or allogeneic stem cell transplant is sometimes necessary. Except in exceptional cases, surgery is only performed during the diagnosis of lymphoma. Doctors may also decide not to prescribe immediate treatment for a patient with non-Hodgkin lymphoma. The patient continues to live normally as long as NHL symptoms are absent. They consult their doctor regularly for follow-up visits and laboratory and medical imaging examinations. Watchful waiting may be considered for certain forms of follicular lymphoma or other indolent lymphomas (low-grade malignancy). As soon as the patient begins to show signs of disease progression, treatment is initiated. Ongoing research is making considerable efforts to assess the efficacy of new medicines and treatment combinations. At the same time, researchers are working to develop new protocols to minimise the short- and medium-term toxicity of these treatments. Treatment for non-Hodgkin lymphoma is progressing rapidly, and many promising new treatments are currently under investigation.

Multiple myeloma is a cancer of the bone marrow. Normally, the bone marrow fills the inside of most bones and produces different types of blood cells. In Belgium, approximately 750 new cases of multiple myeloma are recorded each year, making it the second most common cancer of the bone marrow. This disease mainly affects people over the age of 60 and rarely occurs before the age of 40. It is neither contagious nor hereditary. What is it? Multiple myeloma is characterised by the uncontrolled multiplication of abnormal plasma cells (known as monoclonal plasma cells). Plasma cells belong to a family of white blood cells that produce antibodies (immunoglobulins) to help fight infections. Monoclonal plasma cells undergo changes that make their growth and behaviour abnormal, and they produce only one specific type of antibody, known as a monoclonal protein. This biological abnormality is detected by a test called serum protein electrophoresis, which analyses the proteins present in the blood. Electrophoresis is also performed on urine, as part of the monoclonal immunoglobulin may be detected there. To confirm the diagnosis with certainty, a bone marrow aspiration and/or biopsy is required. An analysis of the chromosomes of the myeloma plasma cells (called FISH) is performed to determine the severity of the disease. When the monoclonal protein is present but there is no excess of abnormal plasma cells, this is not called multiple myeloma but rather monoclonal gammopathy of undetermined significance (MGUS). This precancerous condition means that the cells are not yet cancerous, but that their risk of becoming cancerous is higher. Although the risk is very low (approximately 1% per year), MGUS may progress to multiple myeloma. Symptoms The clinical manifestations are varied and are classically grouped under the acronym “CRAB”: Calcium: excessively high calcium levels caused by bone decalcification in certain areas of the skeleton Renal impairment: multiple myeloma can weaken and damage the kidneys through several mechanisms (deposits of abnormal proteins in the kidneys, dehydration, toxicity from certain medicines, etc.) Anaemia, which may cause fatigue due to a lack of red blood cells “Bone”: malignant plasma cells promote the destruction of bone tissue, creating areas of weakness in the bone that may cause fractures. Pain is often the first symptom of the disease, occurring in the back, ribs, neck or pelvis. Sometimes, it appears suddenly as a result of a vertebral compression fracture or a fracture. Blood tests, urine analyses and skeletal imaging are performed to detect these complications. Myeloma may also manifest itself through infections, particularly bacterial infections, due to weakened immune defences. In approximately 20% of cases, the disease causes no symptoms and no physical symptoms are felt. An abnormal blood test result leads to investigations to determine whether the disease is present (this is referred to as asymptomatic multiple myeloma). Treatment Monitoring in the absence of symptoms: Patients who do not present any detectable abnormalities are simply monitored medically, without starting treatment immediately. Treatment will begin when symptoms appear. Indeed, according to the results of various medical studies, there is no benefit to treatment when there is no organ involvement. Treatment in the event of symptoms: At present, treatments for myeloma cannot eradicate the disease permanently, so it cannot be described as cured. The aim of treatment is to control the disease (achieve remission), relieve symptoms and improve quality of life. There are many effective medicines for myeloma, and discoveries in recent years have led to considerable progress. Treatment protocols generally combine three medicines, including chemotherapy and/or targeted therapies, together with corticosteroids (Medrol, prednisone or dexamethasone). Autologous stem cell transplantation is reserved for patients under 65–70 years of age. Radiotherapy may sometimes be offered in the event of bone lesions. During treatment, monitoring of the disease is based mainly on clinical examinations and monitoring of the monoclonal protein.

What is it? An atrial septal defect is a “hole” in the interatrial septum, thereby creating a connection between the left atrium and the right atrium. It is a common malformation (6–10% of congenital heart disease; 1 in 1,500 births). This atrial septal defect allows oxygenated blood to mix with “deoxygenated” blood. The result is an increased workload for the right atrium, the right ventricle and the lungs. Symptoms Shortness of breath or fatigue during exertion, palpitations… People with an atrial septal defect are more likely to have a Cerebrovascular accident. Treatment Treatment depends on the size and location of the defect and its effects on the heart and lungs. Very often, the atrial septal defect is closed surgically. It is also possible to close it percutaneously (that is, without surgically opening the chest, using cardiac catheterisation techniques).

What is it? Systemic scleroderma is a disease that primarily affects the small-calibre blood vessels (arterioles and capillaries) throughout the body and is accompanied by widespread fibrosis.The involvement of the blood vessels explains an early symptom present in almost all patients: Raynaud’s phenomenon.This very painful phenomenon is characterised by whitening of the fingers when exposed to cold (or to other factors such as stress or cigarette smoking), often followed by a phase during which the fingers become very red or even purple. It may sometimes lead to necrosis (death) of the skin at the fingertips (known as digital ulcers). Fibrosis consists of excessive deposition of collagen, a protein found throughout the body that provides structure to tissues and organs.Immune dysregulation, particularly inflammation and autoimmunity, is also involved in this disease. This is why certain autoantibodies are tested for when establishing the diagnosis of systemic scleroderma.The cause of the disease remains unknown, but it probably involves both a particular genetic predisposition and certain environmental factors. A body of evidence suggests that there is a low genetic predisposition to systemic scleroderma.Analysis of familial risk in several groups of patients has shown that the risk of developing this disease among first-degree relatives (first generation) was 13 times higher than in the general population (15 times higher for the siblings of a patient with scleroderma).Although these results demonstrate a familial risk and support the search for genetic factors, the risk of transmission remains very low for any given individual, and families in which one parent has this disease should be reassured. The symptoms Which tissues and organs are affected by this disease? Systemic scleroderma affects various tissues and organs, including the skin, lungs, digestive tract, kidneys and heart. The fibrosis observed in systemic scleroderma corresponds to an exaggerated and poorly controlled tissue-repair process. The relationship between vascular abnormalities and the fibrotic process is poorly understood. The disease was called systemic scleroderma because of the frequency and appearance of the skin lesions (“-derma”), but the term systemic sclerosis (also used) better reflects the extension of the fibrotic process to other organs, which characterises this disease. Systemic sclerosis must be distinguished from localised scleroderma, in which only the skin is affected by fibrosis/sclerosis; this is also referred to as morphoea. Conversely, in some cases of systemic scleroderma, the skin may be unaffected even though organs are involved; this is referred to as scleroderma sine scleroderma.The extent of skin involvement assessed at its maximum extent (when the involvement was most severe) appears to be associated with the risk of developing deep-organ lesions. Assessing the severity of skin fibrosis is therefore important in guiding monitoring and treatment.Epidemiology of systemic sclerodermaSystemic scleroderma is a rare, so-called “orphan” disease. An orphan disease is defined as having a prevalence (the number of people living with the disease) of fewer than one person in 2,000 (proposed European legislation on orphan medicines). The prevalence of systemic scleroderma is still poorly understood and varies considerably between regions and countries. In Europe, the prevalence is approximately 100 to 200 per million inhabitants.In most cases, the first signs of systemic scleroderma appear at around 40–50 years of age, most often in women (four women for every one man). What are the clinical manifestations of systemic scleroderma?The symptoms and signs present at onset vary according to the two main subtypes of the disease: In the diffuse cutaneous form, all the signs usually appear at the same time, generally combining Raynaud’s syndrome, skin fibrosis that progressively extends towards the thighs and arms, and often joint and tendon pain.In the limited cutaneous form, Raynaud’s syndrome most often predates the disease by several years, and disease onset is often marked by its worsening, associated with thickening of the skin of the fingers (sclerodactyly) and, possibly, of the face and/or the appearance of telangiectasias (small dilations of the blood vessels). Oesophageal involvement is common in this form and is characterised by heartburn and gastro-oesophageal reflux.While the onset of the disease is easy to date in the diffuse cutaneous form, this is often more difficult in the limited cutaneous form. The first sign other than Raynaud’s syndrome is usually used to date the onset of the disease. Progression varies according to the two subtypes of skin involvement, although there are individual exceptions to the following:In the diffuse cutaneous form, the disease progresses rapidly and may lead to more or less significant organ damage, which must be sought from the outset. Studies have shown that after 3 to 5 years, the inflammatory process of the disease often stops or stabilises, with only the damage already established persisting. After several years, some abnormalities may even improve, particularly skin fibrosis, which tends to become more flexible. This is crucial, as it determines patient follow-up (which is particularly close during the first few years) and treatment. Disease-modifying treatments should primarily be evaluated during the active phase of the disease, that is, during the first 3 to 5 years, when fibrosis develops.In the limited cutaneous form, disease progression is slower. The main risk associated with the progression of this form is the development of pulmonary arterial hypertension, which generally occurs after 10–15 years of disease progression. Regular monitoring must therefore be continued to detect this serious complication, which can go unnoticed if the necessary tests are not performed, as it only causes symptoms relatively late. How is scleroderma diagnosed? The diagnosis of systemic scleroderma is based on a clinical examination, blood tests and capillaroscopy. In addition, other tests are carried out to assess the extent of the disease (that is, to determine which organs are affected besides the skin).Clinical signs: mainly Raynaud’s phenomenon and skin thickening; the clinical examination also looks for digestive manifestations (acid reflux, etc.), pulmonary manifestations (shortness of breath, cough, etc.), and others.Blood tests: these look for the presence of antinuclear factors (detectable in 98% of cases), such as anti-Scl-70 antibodies and anticentromere antibodies.Capillaroscopy: the base of the nail is simply examined under a microscope to look for signs of microcirculatory involvement: the presence of dilated capillaries (megacapillaries) and areas where the capillaries have disappeared (avascular areas).Assessment of the extent of the disease may include other tests, such as a chest CT scan, pulmonary function tests, a six-minute walk test, an echocardiogram, an electrocardiogram, right heart catheterisation, a gastroscopy and an X-ray of the hands. Treatment There is currently no treatment that cures the disease.The treatments currently available aim to relieve the symptoms (symptomatic treatment) and slow the progression of the disease (disease-modifying treatment).Symptomatic treatment is primarily aimed at reducing the discomfort caused by Raynaud’s phenomenon and gastro-oesophageal reflux. It consists of taking medicines that dilate the blood vessels and reduce acid secretion by the stomach.Disease-modifying treatment is mainly indicated when the inflammatory component is significant, particularly if it extends to the skin and/or affects organs such as the lungs. In such cases, low doses of oral corticosteroids are used, together with an immunosuppressant medicine (which reduces the activity of the immune system).Some examples of conventional immunosuppressants include azathioprine, mycophenolate mofetil, cyclophosphamide and methotrexate. Newer, more targeted treatments are also available and are still under investigation, including rituximab and tocilizumab.Systemic sclerosis is managed within the Multidisciplinary Centre for Systemic Scleroderma. Specific links www.sclérodermie.bewww.eustar.orgwww.fesca-scleroderma.eu Multidisciplinary Systemic Sclerosis Centre The Multidisciplinary Systemic Sclerosis Centre provides care for systemic sclerosis, a rare autoimmune disease affecting the tissue that supports the organs (connective tissue) and the small arteries (arterioles), whose main characteristic is hardening of the skin. Physicians from different specialties work together to diagnose and treat the disease.Coordination of the Multidisciplinary Systemic Sclerosis CentreTel: 02 555 3650Fax: 02 555 8247Email: msoyfoo [at] ulb [dot] ac [dot] be (msoyfoo[at]erasme[dot]ulb[dot]ac[dot]be)

Systemic lupus erythematosus is a chronic autoimmune disease known as systemic because it can affect several organs, including the skin, kidneys, joints, lungs and nervous system. Clinical manifestations vary greatly from one person to another, but also in the same person over time. Lupus mainly affects women (9 women for every 1 man) and young people (average age between 15 and 45 years). It is a rare disease. It is estimated to affect approximately 5,000 people in Belgium. Lupus is characterised by the presence of autoantibodies in the blood. These are produced inappropriately by the immune system, which, in addition to defending the body against microbes, targets the body’s own cells. Certain types of white blood cells (lymphocytes) become abnormally activated and cause inflammation and lesions in various organs. The onset of this immune dysregulation is probably linked to several factors (hormonal factors, smoking, viruses, medicines, etc.) in individuals with a genetic susceptibility to developing the disease. What are the complications of lupus? In its cutaneous form, lupus causes a rash on the face, often on the cheeks and nose (“malar rash” or “wolf mask”, hence the name lupus). Red patches may appear on areas exposed to the sun (photosensitivity). They may be accompanied by mouth ulcers and/or more or less significant hair loss. This form affects up to 80% of patients during the course of their disease. Joint pain, often affecting the small joints of the hands and wrists, may occur, sometimes associated with swollen joints. This condition is often symmetrical. Inflammation does not generally lead to joint destruction. Joint involvement is present in 75 to 90% of patients. Raynaud’s phenomenon affects approximately 30% of patients with lupus. It involves a change in the colour of the fingertips and toes caused by cold or stress, sometimes accompanied by severe pain. This symptom is not specific to lupus and may occur in the general population, particularly among young women, without any immune disease. Some autoantibodies may predispose patients to thrombosis (the formation of blood clots in the blood vessels), which can cause phlebitis, pulmonary embolism, myocardial infarction or a cerebrovascular accident. This is referred to as antiphospholipid syndrome. Kidney involvement can vary in severity and may sometimes progress to chronic disease. It may develop insidiously, without specific symptoms. It is then detected only through blood tests and testing for proteins in the urine. It may sometimes manifest as fluid retention or high blood pressure. In severe cases, this condition can lead to kidney failure. Lupus can cause inflammation of the membranes surrounding the heart (pericardium) and lungs (pleura). The patient may then experience oppressive, recurrent chest pain, coughing or shortness of breath. Blood abnormalities are observed in nearly 85% of patients with lupus. They fluctuate during the course of the disease and vary widely. They may include anaemia (a decrease in red blood cells), leukopenia (a decrease in white blood cells) or thrombocytopenia (a decrease in platelets). Neurological manifestations also vary in presentation. Headaches are fairly common (30 to 60% of patients with lupus). More rarely, patients may develop epileptic seizures, concentration or memory problems, confusion, mood disorders, depression or drowsiness. How is lupus diagnosed? The diagnosis of lupus is established by taking into account the various symptoms presented by the patient and the results of additional examinations. These examinations include blood tests (to identify antinuclear antibodies, and more specifically anti-Sm or anti-dsDNA antibodies, an increased total antibody level, and reduced levels of certain proteins known as complement factors), imaging examinations to look for complications (heart ultrasound, joint X-rays, etc.), and, if necessary, a skin biopsy. What treatment is available? Given the diversity of clinical manifestations and their combinations, on the one hand, and the parallel and simultaneous involvement of different organs, on the other, the management of patients with lupus must be multidisciplinary. It involves the various specialists for each affected organ, in order to determine the severity of each manifestation and define the best treatment, taking into account all the lesions present in a particular patient. As each patient with lupus has specific clinical manifestations of varying severity, the proposed treatment will be adapted to each patient and may change over the course of the disease. No treatment can cure lupus. The aim of treatment is to reduce inflammation, prevent long-term complications, improve the patient’s quality of life and, if possible, bring the disease into remission (that is, normalise a series of abnormalities in the blood tests and eliminate certain symptoms indicating inflammation). The immune origin of the disease means that medicines are used to regulate or reduce immune activity (immunomodulators and immunosuppressants), including cortisone (sometimes at high doses) and hydroxychloroquine (or Plaquenil, which has a preventive effect against relapses). Other medicines may sometimes be prescribed to help limit the use of cortisone, including azathioprine, mycophenolate mofetil, cyclophosphamide, methotrexate, etc. New medicines have recently begun to be used, such as rituximab and belimumab. They reduce the number of cells that produce antibodies. Other treatments are currently being evaluated for lupus as part of clinical research protocols. Useful links: www.orpha.net www.lupus.be 

What is it? Sinus node disease The sinoatrial node, located in the atrium, contains cells that send electrical signals to the other parts of the heart. There are different types of sinoatrial conduction disorders, ranging from a simple slowing to complete interruption. They may be acute or chronic, permanent or paroxysmal. There are various causes: Myocardial infarction, particularly when it affects the lower part of the heart. Medication overdoses. Most often, fibrotic degeneration of the sinus node, occurring mainly in older people. In this case, it may be associated with episodes of paroxysmal atrial fibrillation or flutter. This results in partial interruption of sinoatrial conduction, leading to bradycardia (a slow heart rate). Symptoms may range from presyncope to syncope. Treatment consists of inserting a pacemaker with two leads, one in the atrium and the other in the right ventricle. Atrioventricular blocks This is impaired atrioventricular conduction, ranging from slowing to complete interruption. It indicates lesions affecting the conduction tissue located in the atrioventricular node. There are several causes: Myocardial infarction. Acute inflammatory and/or idiopathic atrioventricular block. Medication overdoses. However, the most common cause is fibrotic degeneration of the atrioventricular conduction tissue. Its origin is undetermined. It occurs in older people. The clinical manifestations may be asymptomatic, meaning that the person feels nothing, but they mainly involve a slow heart rate (bradycardia), characterised by fatigue and even recurrent syncope. There are several classifications: First-degree atrioventricular block (which does not require a pacemaker). Second-degree atrioventricular block, which is divided into Mobitz I and II. Third-degree atrioventricular block. Treatment consists of inserting a pacemaker with two leads, one in the atrium and the other in the right ventricle. Fibrillation Atrial fibrillation is a heart condition characterised by random contractions of the atria (the small chambers of the heart), causing the overall heart rhythm to become irregular. It is the most common heart rhythm disorder in the population and can cause very serious complications, such as cerebral embolisms. These are small blood clots that block arteries in the brain and are one of the causes of cerebrovascular accidents. This condition, which is more common in people over 60, may have several causes: Heart disease (mitral valve disease, myocardial infarction, etc.). A non-cardiac condition (excess thyroid hormones, a lung infection, pulmonary embolism, alcohol consumption, etc.). Sometimes no cause is found; this is then referred to as idiopathic atrial fibrillation. The doctor may suspect the diagnosis during the clinical examination, mainly finding that the pulse is fast and irregular. However, atrial fibrillation is not always permanent, which makes diagnosis more difficult. Doctors then refer to it as paroxysmal atrial fibrillation. Treatment Cardiac arrhythmias are treated at the Arrhythmology Clinic.  An electrocardiogram can reveal the irregular, chaotic and rapid activity of the atrium. When the electrocardiogram is normal but the doctor strongly suspects the presence of atrial fibrillation, the cardiologist will perform a 24-hour electrocardiogram recording (an examination known as a 24-hour Holter monitor). Various treatments are available to treat this condition or prevent its complications. Overall, many medicines, known as antiarrhythmics, can treat the vast majority of patients. If the response to medication is inadequate—that is, if the patient continues to experience symptoms that are difficult to tolerate (troublesome palpitations, discomfort, fainting, etc.)—or if the patient cannot tolerate the medicines prescribed by their cardiologist, a more radical method is available. This involves “burning” the areas of the heart responsible for the arrhythmia in order to restore a regular heart rhythm. This burning is performed by applying an energy source (usually radiofrequency) directly to the inner wall of the atria. This beating-heart technique, generally used in some specialised cardiology centres, involves ablating or isolating the pulmonary veins (which are responsible for the arrhythmia) by introducing several probes, or catheters, into the heart under fluoroscopic guidance. The advantage of this procedure is that it can be performed under local anaesthesia, through a puncture (= the first step in advancing a catheter) in the groin and, if necessary, in the neck. Unfortunately, this technique can be laborious and lengthy, and it sometimes needs to be repeated a few days later. The final outcome cannot be predicted with certainty, but the current expectation in the best centres is a 50–60% cure rate for symptomatic atrial fibrillation (also called paroxysmal atrial fibrillation). It should nevertheless be noted that these results will probably improve with the emergence of new technological developments. Since June 2003, we have developed a surgical approach designed to increase the chances of success of the pulmonary vein isolation procedure while maintaining its minimally invasive nature. It involves encircling the areas potentially responsible for atrial fibrillation (the pulmonary veins) from outside the heart, using a surgical robot. This tool is particularly useful: not only does it facilitate the surgical procedure (the robot’s wrists have a much greater range of movement than the surgeon’s hands), but it also makes it possible to operate on the heart without actually opening the sternum or thorax, except for three small incisions of less than 1 cm between the ribs.

These are sometimes serious chronic diseases that affect men and women and, much more rarely, children or adolescents. However, certain age groups are more commonly (or even exclusively) affected, depending on the type of vasculitis diagnosed (for example, giant cell arteritis, or “Horton’s disease”, which occurs only after the age of 50). Vasculitis (called vascularites in France) is defined by the presence of inflammation of the blood vessels: arteries, veins and/or capillaries. The walls of the affected vessels may either thicken or, more rarely, become thinner and dilate. If blood flow through the affected vessels is severely reduced or stops altogether (thrombosis – the formation of blood clots), the organs or tissues supplied by these vessels no longer receive sufficient oxygen and become dysfunctional or damaged, potentially progressing to necrosis (i.e. cell death) of the affected organ or tissue. The origin of these diseases is complex and still relatively poorly understood. The main factors are environmental (such as infection with certain viruses) and/or intrinsic to the patient’s immune system, which—in addition to defending against external agents (such as microbes)—attacks and damages the individual’s organs (the concept of autoimmunity). This predisposition to immune-system dysregulation is thought to have a genetic origin, although we still know very little about the genetic abnormalities involved. Fortunately, this genetic influence does not imply a significant risk of familial transmission. The term vasculitis encompasses a range of different diseases that share inflammatory involvement of the blood vessels. These diseases are classified according to the size of the vessels affected by the inflammation: small-, medium- or large-vessel vasculitis. Among small-vessel vasculitides, a further distinction is made between those associated or not associated with the presence in the blood of an autoantibody called ANCA (for “Anti-Neutrophil-Cytoplasmic-Antibody”), an antibody directed against proteins expressed in neutrophils (the most abundant white blood cells in the blood). Small-vessel vasculitides include granulomatosis with polyangiitis (formerly Wegener’s disease), eosinophilic granulomatosis with polyangiitis (formerly Churg–Strauss syndrome), microscopic polyangiitis, IgA vasculitis and cryoglobulinaemic vasculitis (the latter two are not associated with ANCA). Medium-vessel vasculitides include polyarteritis nodosa and Kawasaki disease (which affects almost exclusively children). Large-vessel vasculitides include giant cell arteritis (also called Horton’s disease) and Takayasu disease. Behçet’s disease involves vessels of several different sizes. Clinical presentation The clinical presentation of vasculitides varies considerably. Given the diversity of the type (for example, large or small blood vessels) and location of the vessels affected, depending on the disease, it is not possible to provide an exhaustive description here of the highly variable clinical presentations from one individual to another. By way of example, the following are some of the ways in which certain vasculitides may present in their most typical forms: Horton’s arteritis - headaches, visual disturbances, pain in the shoulders and pelvis Granulomatosis with polyangiitis - fever, weight loss, diffuse joint pain, cough, shortness of breath, coughing up blood, nosebleeds, inflammation of the sinuses with hearing problems, kidney dysfunction Eosinophilic granulomatosis with polyangiitis - increasingly severe asthma, shortness of breath, cough, loss of strength and/or sensation in a nerve distribution (for example, in a foot or hand), red/purple spots on the skin. Diagnosis Diagnostic methods naturally include investigations directed at the affected organ or organs, as well as the search for specific findings that can establish a precise diagnosis. A key step is often performing biopsies of organs affected by the disease, which are analysed under a microscope by a specialist physician (anatomical pathologist) to look for vascular inflammation (vasculitis). Other investigations are often required, such as vascular imaging (Doppler ultrasound, CT scan, PET-CT, etc.) in large-vessel vasculitides (such as giant cell arteritis, or “Horton’s disease”), or testing for antibodies directed against certain components of our body (for example, testing for ANCA in granulomatosis with polyangiitis). Treatment The aim of the treatment of vasculitides is to reduce immune-system activity. The cornerstone is a corticosteroid (commonly called “cortisone”), which is often rapidly effective but has a “bad reputation” because of its well-known side effects; these should be put into perspective according to the cumulative dose. Immunosuppressive medicines targeting a type of white blood cell—the lymphocytes—which are particularly involved in (auto)immunity, are also routinely added to some extent. More recently, targeted treatments (called monoclonal antibodies) have proved to be major advances in the treatment of vasculitides. They are directed more specifically against certain lymphocytes or against molecules involved in inflammation/immunity. Access to them is limited by their very high cost and the reimbursement conditions set by INAMI. Sometimes, they are available only through clinical studies conducted in a limited number of hospitals. Useful links The vasculitis A–Z guide The French patient association CANVASC (Canadian study group) There is no Belgian patient association, but there is a Belgian contact person for the French association, whose contact details can be obtained from that French association.

Definition and symptomsMastocytoses are a group of diseases characterised by the abnormal proliferation of mast cells as a result of an acquired activating mutation of the CKIT gene (D816V), and their accumulation in various organs: the skin (mainly), haematopoietic organs (bone marrow, liver, spleen), the digestive tract and bones. They are also characterised by the autonomous, unregulated activation of mutated mast cells, which causes their excessive degranulation (release of mast-cell mediators contained in the mast-cell granules).Symptoms of mast-cell activation (MCAS) may affect all organs and include: flushing (episodes of redness), itching, anaphylactic shock, malaise, various digestive disorders (diarrhoea, pain, food intolerances), various types of pain, particularly skeletal pain and headaches, fatigue, sleep and mood disorders, rhinitis and shortness of breath.Mastocytosis is a rare disease, affecting approximately 1 in 150,000 patients per year.TypesMastocytosis is referred to as cutaneous when there is no excess of mast cells in organs other than the skin. This form is by far the most common in children.From birth or during the first weeks of life, a child may develop one or more skin lesions corresponding either to urticaria pigmentosa or mastocytomas. These lesions are particularly reactive to friction or sudden changes in temperature, which may cause blisters to appear and trigger symptoms of mast-cell activation (diarrhoea, malaise, etc.). Mastocytosis in children may regress completely during adolescence. However, the exact frequency of this spontaneous remission remains to be determined (50% of cases or more?). When mastocytosis is diagnosed in an adult, it is always considered systemic; the disease is chronic, and no treatment is considered capable of curing it. However, mastocytosis in adults is most often indolent. The most common form in adults (80% of cases) is Indolent Systemic Mastocytosis (ISM). Skin involvement is common, in the form of urticaria pigmentosa or telangiectasias (TMEP). Infiltration of organs other than the skin causes neither enlargement nor dysfunction of these organs. Most symptoms result from MCAS, which may sometimes cause significant functional impairment (for example, in cases of recurrent anaphylactic shock, urgent diarrhoea, disabling pain, repeated flushing with post-episode fatigue, cognitive and mood disorders). Quality of life may therefore be severely impaired in some patients, while other patients remain asymptomatic. In this form, screening for bone demineralisation (30% of patients) is essential in order to initiate bone-forming treatment if necessary and prevent vertebral fractures. These patients’ survival is not threatened. Outpatient follow-up takes place annually. The remaining 20% of patients have an aggressive form of mastocytosis (primarily aggressive systemic mastocytosis, and much more rarely mast-cell leukaemia or mast-cell sarcoma), with or without an associated non-mast-cell clonal haematological disorder (mainly myelodysplasia). They are managed in a haematology inpatient setting. Their survival is rapidly threatened by dysfunction of at least one organ massively infiltrated by mast cells: liver failure, bone-marrow failure, cachexia due to digestive malabsorption or hypersplenism.  MCAS is rare or absent. Cytoreductive treatment must be initiated urgently.How is mastocytosis treated?There is no curative treatment for mastocytosis. The therapeutic objective depends on the type of mastocytosis.In most cases, the disease is indolent. The therapeutic objective is to improve patients’ quality of life if it has deteriorated. Treatment includes strict avoidance of any factor identified as triggering mast-cell degranulation (food, medication, hymenoptera sting, excessively strenuous physical activity or extremely high or low temperatures), as well as symptomatic treatment (antihistamines). If, after at least 6 months of optimal and properly administered symptomatic treatment (maximum doses and good adherence to the prescription), the impairment remains too disabling, long-term cytoreductive treatment may be considered. In patients with a history of anaphylactic shock, an adrenaline auto-injector must be carried at all times.In the rarer aggressive form of mastocytosis, the primary objective is to reduce the mast-cell infiltration that is suffocating the organs. Cytoreductive medicines (cladribine-based chemotherapy and tyrosine kinase inhibitors) are essential for this purpose and must be started as soon as possible.Information for patients and their familiesPresentation of the French reference centre for mastocytoses – CEREMAST brochureMastocytosis patient associations

Aesthetic surgery aims to correct physical imperfections that may negatively affect the patient. Some procedures can be considered to enhance the patient’s appearance, while others are primarily intended to rejuvenate them. In any event, the ultimate aim of this surgery is to bring the patient’s body closer to the ideal image they have of themselves. Among the most common procedures are: Breast augmentation Breast reduction Correction of breast ptosis (sagging) Face and neck lift Blepharoplasty (eyelid surgery) Rhinoplasty (nose surgery) Correction of protruding ears and liposuction (saddlebags, abdomen, thighs, etc.) Abdominoplasty Arm lift Thigh lift This list is, of course, not exhaustive. A consultation with one of the surgeons in the Department allows each case to be assessed individually.

Hypereosinophilic syndromes and eosinophilic diseases Hypereosinophilia refers to a significant increase in the level of eosinophils in the blood and/or tissues.

What is it about? Aortic stenosis Aortic stenosis is a narrowing of the valve at the outlet of the left ventricle (the aortic valve). Narrowing of the outflow opening increases the workload of the heart, eventually leading to heart failure if left untreated. Causes of aortic stenosis There are three main causes of aortic stenosis: Degenerative disease, which is common in older patients. This degeneration is favoured by high blood pressure and possibly by atherosclerosis, but it can also appear at an early age in certain congenital abnormalities of the aortic valves. Bicuspid aortic valve, which is present in 1 to 2% of the general population. The structure of the aortic valve (2 cusps instead of 3) accelerates valve ageing; consequently, a bicuspid aortic valve is a more frequent cause of valvular disease in younger people. Acute rheumatic fever, which has become rare in Northern Europe thanks to the early administration of antibiotics in children with sore throats. Symptoms of aortic stenosis Angina pectoris: chest pain that generally occurs during exertion and may also occur in coronary artery disease. Exertional syncope. Dyspnoea (shortness of breath) occurs later in the course of the disease. Treatment of aortic stenosis This is the surgery used to remove the obstruction to left ventricular outflow. It generally involves replacing the aortic valve with either a biological or mechanical prosthesis. Less commonly, the valve is replaced with the patient’s pulmonary valve (Ross procedure). Surgery is indicated as soon as symptoms appear. Aortic regurgitation Valve insufficiency, particularly of the aortic valve in this case, is the inability of the valve to close completely. This results in retrograde leakage (regurgitation) of blood back into the heart chamber from which it originated. In this case, blood ejected from the aorta flows back into the left ventricle, causing it to become “overworked”. Causes of aortic regurgitation Acute rheumatic fever has become a rare cause in Europe. In this case, insufficiency is most often accompanied by stenosis (see above). This is then referred to as aortic valve disease. Bicuspid aortic valve (a congenital morphological abnormality). Infective endocarditis is the most common cause of acquired acute aortic insufficiency. Annulo-aortic ectasia: dilation of the aortic root, resulting in dilation of the valve annulus, whose leaflets no longer come into contact. Isolated valvular dysplasia, in which the valvular tissue degenerates. Dissection of the ascending aorta. Aortitis, such as syphilis, Takayasu disease, Kawasaki disease, ankylosing spondylitis, Horton’s disease, Behçet’s disease, etc. Connective tissue diseases such as systemic lupus erythematosus, antiphospholipid syndrome, etc. Chest trauma (extremely rare). Symptoms of aortic insufficiency Dyspnoea Presyncope; syncope is less common. Fatigue. Treatment of aortic regurgitation Initially, treatment is medical, with the aim of stabilising the patient and preventing deterioration of cardiac muscle function. If the patient develops symptoms or if the left ventricle deteriorates (on echocardiography), the valve should be replaced with a biological or mechanical prosthesis. In some cases, the valve can be repaired (for example, in annuloaortic ectasia). Acute aortic regurgitation (aortic dissection or endocarditis) most often constitutes a surgical emergency.

What is it about? The coronary arteries are the arteries that supply the heart and provide it with the oxygen it needs to function. They run along the surface of the heart. Two coronary arteries bring oxygen-rich blood to the heart: the left and right coronary arteries. These arteries divide into arterioles that end in capillaries within the heart muscle. Blood from the capillaries is collected in venules, which return the blood to the right side of the heart. Complete or partial blockage of a coronary artery deprives the heart of the oxygen it needs. This causes intense chest pain (a band-like pain) that radiates to the left arm or towards the jaw. Myocardial infarction refers to the sudden blockage of a coronary artery. The area of heart muscle that is no longer supplied with blood dies within a few hours. Angina pectoris is a painful episode resulting from an insufficient supply of oxygen to the heart muscle (myocardial ischaemia). This lack of oxygen is itself caused by narrowing of a coronary artery. An episode of angina pectoris occurs during exertion: this is when the heart no longer receives enough oxygen. It should be stressed that not all chest pain is due to angina pectoris. Angioplasty (dilation of the coronary arteries) or surgery may be necessary. How can a coronary artery become blocked? Through two different mechanisms: Atheromatosis, resulting from the formation of cholesterol plaques on the arterial walls. Spasm or contraction of the muscles in the coronary arteries. Atheromatosis results from several different causes: Excess cholesterol in the blood. High blood pressure. Smoking are the main risk factors. Other factors also play a role: Stress. Diabetes. Glucose intolerance. Obesity. A sedentary lifestyle. Factors beyond our control: age, sex and heredity. Treatment Addressing risk factors is essential. Medical treatment can slow down or reverse atherosclerotic lesions. In many cases, however, angioplasty (dilation of the coronary arteries) or surgery is necessary.