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It is essential for patients to actively participate in the monitoring and treatment of their disease to increase their personal satisfaction and autonomy. Having reliable, verifiable information is also of great help in managing the disease.
Hereditary angioedema is such a rare disease that it is little-known even among healthcare workers. This means that in this case the patients themselves particularly need to know how to act in the event of an emergency, especially when they are not in their usual environment or are far away from their medical team.
It is advisable, as far as possible, to avoid possible triggers or aggravators of attacks:
The following symptoms indicate a suspected case:
The doctor must make a correct differential diagnosis in order to rule out other causes, such as appendicitis.
In this case it is important to remain calm and follow the doctor’s instructions. Here is some general advice:
1. Ask someone to help you explain what is happening to you.
2. Have the clinical report issued to you by your doctor at the ready.
3. If you have rescue or emergency medication (intravenous Berinert® or Cinryze®, or subcutaneous Firazyr®):
a) If you have been taught how, self-administer it in accordance with the instructions.
b) If you cannot administer it yourself, take it with you to the health centre.
4. Go to your nearest health centre for emergency treatment.
5. Make an appointment with your specialist once the immediate crisis has been dealt with.
In the case of a significant symptom burden in type I and II angioedemas, C1-INH may be administered as a prophylaxis.
TRANSFUSIONS – CAN I GIVE BLOOD?
It is not advisable for patients with hereditary angioedema of any type or acquired C1-inhibitor deficiency to donate blood.
LONG OR FOREIGN TRIPS
We recommend you take an up-to-date copy of the clinical report issued by your doctor with you. It is a good idea to have the report translated into the language of your destination or English.
Find out where the nearest healthcare centre is.
Always carry rescue or emergency medication with you and make sure it has not expired. Have your medical report to hand at security controls at airports or railway stations to avoid problems.
DIET
You do not have a follow a special diet because it is not an allergic oedema and it is not caused or triggered by a food allergy.
Diet does not have any impact on the evolution of the disease. You should, of course, follow the healthy diet recommendations issued to everyone.
This is the most serious group of primary immunodeficiency disorders (PID) - genetically-based minority immune system disorders - affecting the T lymphocytes, cells that are essential to eliminate microbes.
The global incidence is around 1/50,000 newborns, with regional differences and a greater incidence among populations with a high consanguinity rate.
This is a group of genetic diseases included in the PID group, in which the thymus (the training school for lymphocytes) does not work properly. It includes different types of genetic diseases, each of them with a specific genetic alteration.
All of them are genetic diseases and depending on the type of SCID they can be inherited (mutation in the parents) or not (newly appeared mutation). The most common way is linked to the X chromosome and only affects boys. The others can affect both boys and girls.
When there are clinical symptoms, with a blood test to see if there are lymphocytes and whether they are working properly.
Since 2017, in Catalonia it has been possible to detect it in newborns with the heel test, enabling early diagnosis before complications begin to appear and resulting in a better prognosis. The newborns that test positive in the screening are referred to the leading immunodeficiency hospital (in Catalonia, Vall d’Hebron Children’s Hospital)
This is a serious disease that is potentially fatal if not treated in time.
• Serious viral, bacterial and fungal infections.
• Skin, intestinal, lung alterations, etc.
They can be cured with a bone marrow transplant and genetic therapy.
Whilst waiting for a transplant, patients must take protective measures (antibiotics, immunoglobulines, isolation, etc.) to be in the best possible state of health when the transplant takes place.
This is a type of primary immunodeficiency disorder (PID) - genetically-based minority immune system disorders - which affects the granulocytes, the cells that are essential to eliminate microbes.
Neutrocytes or phagocytes are cells that usually destroy bacteria, but with this disease they are incapable of eliminating them. With this disease, the phagocytes look for reinforcement from the surrounding cells, creating a “ball” (called a granuloma) to try to contain the infection.
With a specific blood test:
It can also cause:
Autoinflammatory syndromes are a group of conditions characterised by spontaneous, recurring or persistent episodes of multi-systemic inflammation. They are caused by changes to innate immunity that cause deregulation of the immune system. Autoinflammatory conditions, due to various genetic mutations, cause a pathological hyperactivity in this structure, which unleashes abnormal, continuous inflammatory activity. The number of conditions the group includes has increased since then, due to the advances in genetics and immunology.
The main symptom of many of the conditions included in the group is repeated episodes of fever, which spontaneously disappear after a few days, only to reappear again cyclically after a variable period of time. This fever is not caused by an infection and, therefore, does not respond to treatment with antibiotics or antiviral medication. Depending on the genetic defect, these conditions may be associated with a wide diversity of other manifestations, including skin, abdominal, joints, eyes or lungs.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The majority appear in infancy or adolescence.
Recent progress with research has clearly shown that some fevers where the cause is not found are provoked by a genetic defect.
Depending on whether or not they have a genetic cause, they can be classified as follows:
The diagnosis is based on the clinical features of each patient’s clinical picture. Blood tests are important in diagnosing the various autoinflammatory conditions, as they enable detection of the existence of inflammation. These analyses are repeated when the child is asymptomatic to see if they have normalised. Molecular or genetic analysis enables detection of the presence of mutations involved in the development of autoinflammatory conditions which are studied in patients suspected of suffering from them according to the features of the clinical picture. The diagnosis is confirmed when the patient shows evidence of being a mutation carrier and it is often necessary to study family members too.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. For example, for familial Mediterranean fever, the treatment of choice is colchicine. Other treatments used on the various autoinflammatory conditions are cytokine inhibitors, such as IL-1 or the tumour necrosis factor α. Close monitoring of the patient is essential to prevent complications arising in the long term.
Informació pràctica com a CSUR de malalties autoinflamatòries
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:
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