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Hereditary angioedema is a rare genetic disease that affects approximately one in 50,000 people. It is usually an inherited disorder and is characterised by the accumulation of fluids outside the blood vessels, causing swelling of the face, hands, feet, extremities, genitals, gastrointestinal tract or the upper respiratory tract. Because it is a low-prevalence disease with symptoms similar to those of other diseases and is therefore difficult to diagnose, it is important for there to be reference centres so that suspected and diagnosed cases can be centralised.
The inflammation that hereditary angioedema causes does not present associated itching and may last for 1 to 5 days. These symptoms are developed as a result of the malfunction of certain proteins that help maintain the normal flow of fluids through the blood vessels (arteries, veins and capillaries).
The seriousness of the disease shows a significant degree of variance. Angioedema episodes may be extremely incapacitating and have a serious effect on the patent’s quality of life. When it occurs in the region of the mouth or neck, the sufferer may die of asphyxia if they are not given preventive treatment.
In most cases symptoms start to manifest in childhood and/or puberty and continue throughout adult life.
There are different types of hereditary angioedema and they are classified according to whether or not they present a deficiency of the C1 component of the complement (C1-INH).
Swelling of the subcutaneous tissue in any part of the body, although it is most commonly found in:
Depending on the affected area, the symptoms may range from local discomfort to invalidity of the affected extremity, discomfort or pain when swallowing, voice changes, loss of voice, or dyspnoea (shortness of breath).
At one time of their life up to 50% of patients may present an episode that affects the throat, which if not immediately treated could lead to asphyxia.
Hereditary angioedema affects people who exhibit a mutation in certain genes, such as SERPING1, F12, PLG, KNG1 and ANGPT1. As it is a dominant autosomal disease, an affected patient has a 50% chance of passing it on to their children. Given that it is a genetic disorder, it is common to find that more than one member of the family is affected.
Depending on the type of mutation, it may affect men and women equally (types I and II) or women more frequently (HAE-nC1-INH). Cases of hereditary angioedema without C1-INH deficiency are usually associated with hyperoestrogenic states, such as pregnancy or the consumption of contraceptives that contain oestrogens.
The Allergology Clinic first assesses patients who present with recurring angioedema episodes and cases in which there are family members who also suffer them. Subsequently, a blood analysis is requested to determine the levels of the components of the complement, including the inhibitor of component C1 (C1-INH) and, finally, the diagnosis is completed with a genetic study.
Treatment depends on the number of attacks, the severity of the symptoms and the degree to which quality of life is affected. Treatment is always on a case-by-case basis and may be acute, which means the subcutaneous of intravenous administration of medication at the time of the angioedema attack, or preventive, to stop attacks occurring so frequently. The latter treatment is usually recommended for the patients who suffer the most episodes.
Angioedema treatments can be self-administered by the patients.
In the case of surgery, endoscopies, tooth extractions or certain dental procedures, treatment must be given in advance to prevent an attack.
Blood analysis normally forms part of the diagnostic procedure. Depending on the treatment, during monitoring it may be necessary to perform an abdominal ultrasound and draw blood for analysis.
Factors known to possibly trigger attacks should be avoided as far as possible:
An allergy is an immune-system disorder characterised by an exaggerated response to external elements, known as allergens, that are harmless to most individuals. These can be pollen, mould, animal hairs, foods, wasp or bee stings, and medications. This disorder may manifest in isolation in the respiratory (hay fever, asthma), abdominal or cutaneous systems, or, in severe cases, in multiple organs and systems.
They may appear in isolation in respiratory, abdominal or cutaneous systems, depending on the route of exposure to the allergens (respiratory, ingestion, etc.,) and cause various illnesses such as asthma. In severe cases, reactions may lead to combined symptoms in several organs and systems and cause a life-threatening condition called anaphylaxis.
Depending on the area affected, there may be:
In the event of a systemic reaction (anaphylaxis) the symptoms mentioned above have the tendency to appear all together within the first hour of exposure to the allergen, and these may also be accompanied by a feeling of dizziness and fainting that require urgent medical attention and medication.
The WHO classes allergic disease as one of the six most common afflictions in the world. It is estimated to affect up to 20% of the world’s population, with developed and industrialised countries affected the most.
Here in Spain, it is estimated that one in four people may suffer some kind of allergic disorder in their lifetime. Nevertheless, there are notable differences in the frequency of presentation of the various allergic diseases in our country's geographic regions. Bronchial asthma, for example, is more common in the coastal and island areas than in the centre of the peninsula, with a prevalence that ranges between 1% and 5% of the general population. By comparison, the European average is 6%.
There are no definitive data available on the frequency of the various allergic diseases, given the disparities between the results of the various studies conducted. However, we do have reliable data on the reasons for the consultations made by Spanish patients with allergists: hay fever (allergic rhinitis), asthma and allergies to medications occupy the top three spots, with a frequency of 54%, 23%, and 17%, respectively.
Hay fever is the most common affliction, affecting up to 21% of the general population in Spain, even though there are, as with asthma, notable differences between geographic areas. Atopic dermatitis is the next most frequent, affecting 4% of school-aged children. Lastly, food allergies affect 3-5% of the paediatric population, but less than 2% of adults.
The second half of the 20th century saw a spectacular rise in allergy numbers , multiplying fivefold in developed countries. It seems, however, that the trend over the last decade has reached a plateau, and a slight decrease has even been observed.
Allergy tests are used to identify the substances a patient is sensitised to. This study is based on the use of skin tests, laboratory tests to study the presence of antibodies against the suspected allergens and controlled exposure to these allergens.
In the case of allergic respiratory diseases, such as hay fever or asthma, a precise measurement can be made of a patient is affected through safe, painless techniques such as spirometry, the exhaled nitric oxide test and acoustic rhinometry. There are other diagnostic tests of uncertain or untested value whose results should be interpreted with caution and with our current scientific knowledge taken into account. In any case, the allergist should always be the professional who prescribes and evaluates all these tests.
The treatments available for allergic disorders vary depending on their characteristics, the severity of the allergies and whether they focus on alleviating symptoms or curing the condition:
There are currently no specific recommendations for preventing the appearance of this disease. In the specific case of food allergies, it has been observed that the early introduction of foods that are traditionally considered “allergens”, from 4-6 months of age onwards (keeping in mind the psychomotor and digestive development of babies), can reduce their risk of developing allergies.
Eczema is a skin condition characterised by the appearance of small vesicles and which exudes fluid. Flaking skin produced by the disease can cause itching, inflammation and pain. It is the skin’s inflammatory response to external or internal stimuli and there are two types: endogenous (or atopic), and exogenous (or contact). Often called dermatitis, eczema has different clinical presentations and may have several different causes.
The existence of other diseases, allergies, contact with irritants and genetic inheritance are some of the causes of eczema.
Endogenous or atopic eczema is an atopic disease typically found in patients with rhinitis, conjunctivitis, asthma and dermatitis, and usually presenting as hypersensitive dry skin. It is often related to allergic reactions or external stimuli such as exposure to pollen, dust, fur, and urticaria, viral infections and bacterial skin infections.
Exogenous or contact eczema is the allergic or irritative reaction to chemical substances that have come into contact with the skin and that the body interprets as toxic.
Eczema shows up as skin lesions made up of itchy scaly red patches on different parts of the body. Sometimes there may be an inflammatory reaction in the area of the outbreak that may give rise to serum-filled blisters.
Figures show that around 30% of patients with eczema have a family history of atopic disease in the family. Atopic eczema can appear when a child is just a few months old and in these cases it does so on the scalp, face and nappy area. It usually disappears during puberty, leaving the skin dry, and in some cases, signs of atopy such as urticaria or asthma.
Contact eczema appears in patients sensitive to a particular substance, called an allergen. The affected person will have a skin reaction each time they are exposed to this substance.
Suspected diagnosis of each type of eczema must be carried out through studying the patient's medical history. In most cases, diagnosis is clinical, in other words, the dermatologist will diagnose the condition after examining the patches on the skin. If there is any doubt, a skin biopsy can confirm diagnosis.
For contact eczema, a patch test will be needed to determine the allergen responsible for the patient’s patches of eczema.
There are three types of treatment:
Desensitisation is one of the treatments available for inducing temporary or permanent tolerance by repeatedly administering to patients repeated doses of the allergen causing them problems. It is a commonly used procedure for treating allergies to some medications and foods.
Desensitisation consists of administering, under controlled conditions, increasing doses of the allergen the patient is sensitised to, to make them tolerant of the medication or food that causes them problems.
This usually induces temporary tolerance, which means the patient can receive treatments they were originally allergic to, instead of having to take less effective alternatives. In the case of foods, patients may become completely tolerant to them or gain some protection against accidental ingestion of the allergen.
Patients undergo desensitisation treatment under the care of an allergist, at the hospital.
There is a risk of allergic reactions during the procedure.
Immunotherapy is a long-term, preventive treatment that aims to reduce the symptoms of patients diagnosed with hay fever, allergic asthma, conjunctivitis, or allergies to insect stings.
The objective of immunotherapy with allergens is to change the allergic response by inducing immunological tolerance. A patient with allergies has symptoms when they are exposed to the relevant allergen. Immunotherapy uses a larger quantity of the allergen, in combination with a different route of entry into the body. This modifies the immune system's abnormal response, causing it to develop a tolerance to the allergen instead of inflammation and allergic symptoms.
Immunotherapy was originally administered by subcutaneous injection.There are currently liquids or fast-dissolving tablets that can be used in sublingual immunotherapy for certain allergens.
Subcutaneously injected treatments are administered every 4 or 8 weeks; sublingual treatments must be administered daily. This is generally continued over a period of 3 to 5 years. Many patients experience a prolonged protective effect after that period, so an assessment may be made of stopping the immunotherapy.
Immunotherapy is indicated for patients with allergic rhinoconjunctivitis or allergic asthma who:
Immunotherapy with hymenoptera venom is indicated for individuals who experience a severe generalised reaction to bee or wasp stings.
Immunotherapy is generally safe and well tolerated when used in suitably selected patients. Even so, localised and generalised reactions can occur.
The most frequent reactions are localised ones, such as redness or itching at the injection site. These reactions are most likely to occur during the first administration of the treatment, which is why immunotherapy starts at the Allergology Department and, if well tolerated, can be continued on an outpatient basis.
The Allergology Department treats patients with allergies, a very common pathology that now affects approximately one in four people.
At the Allergology Department, our mission is to provide care for people with allergy-related diseases and to improve their quality of life, in accordance with their needs and wishes. The key to achieving this is comprehensive care. We work hard to provide faster, reliable diagnoses and offer personalised treatments.
The Allergology Teaching Unit is led by allergy and immunology professionals from the Internal Medicine Department (General Hospital), and from Paediatric Allergies from the Respiratory Medicine, Cystic Fibrosis and Allergy Department (Maternity and Children's Hospital). The Unit’s healthcare activities are divided into outpatient clinics, the day hospital and medical interconsultations. We were the first to use molecular diagnostics for complex allergic conditions in Catalonia and we are the leading centre for rare disorders such as hereditary angioedema and systemic mastocytosis.
Allergology training itinerary
The Allergology Unit has been training residents since 1982, and is where most heads of allergology divisions in Catalonia did their training.
We attend to outpatients regarding allergic respiratory disease, paying special attention to asthma, complex food allergies, hymenoptera allergies, chronic urticaria, atopic dermatitis, and drug allergies.
The Day Hospital carries out controlled drug exposure tests and chemotherapy and other drug desensitization therapies. The paediatric unit carries out food desensitization therapies. We also deal with hospital consultations on a daily basis.
The unit carries out clinical research in the fields of anaphylaxis, hereditary angioedema, food allergies and chronic urticaria. In terms of experimental research , we offer the opportunity to carry out specific immunoglobulin E and G tests by biochip, and basophil activation tests. Five doctoral theses have been supervised by the Unit and all its staff physicians are qualified Doctors of Medicine.
Why specialise at Vall d’Hebron?
Allergology, General Hospital
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