We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
Patients are the centre and the core of our system. We are professionals committed to quality care and our organizational structure breaks down the traditional boundaries between departments and professional groups, with an exclusive model of knowledge areas.
Would you like to know what your stay at Vall d'Hebron will be like? Here you will find all the information.
The commitment of Vall d'Hebron University Hospital to innovation allows us to be at the forefront of medicine, providing first class care adapted to the changing needs of each patient.
The Inherited Heart Diseases Unit of the Cardiology Department is primarily dedicated to patient care. This Unit specialises in managing all types of heart muscle diseases, focusing on inherited ones.
This unit treats heart diseases involving the myocardium, where the heart muscle becomes weakened, enlarged, or has another structural issue. Often, this prevents the heart from pumping blood effectively or functioning correctly. As inherited heart diseases are relatively rare, they require specialised management, which goes beyond the expertise of a general clinical cardiologist. It is necessary to have specific treatments and access to appropriate technology.
A genetic disorder is a disease that originates from an alteration in a gene. In order to diagnose a disease of this type, a DNA analysis must be carried out that allows the detection of mutations or hereditary changes.
Our DNA is like a great library that contains all the information that makes our body work. Each of the books on the shelves are our genes, and an error in one of them is called mutation. These mutations cause genes to not be read correctly, and alter the manufacture of proteins and, therefore, also some functions of our body, leading to different diseases.
Our body is protected from these genetic disorders by having duplicate DNA, that is, we all have two copies of each gene, one inherited from our father and the other from our mother. This means that the appearance of genetic disorders is conditioned by the number of copies we have altered.
In addition to the main hereditary types, there are cases that do not follow these basic rules. This is due to the existence of other less known factors that make each person manifest the disease in different ways:
In recent years, the study of genetic mutations has evolved exponentially, thanks to the appearance of improved techniques that allow us to sequence our genome, all our DNA. Sequencing is basically 'reading' and knowing the exact sequence each of our genes has. Therefore, depending on the situation, we will analyse a specific gene or we will have to go further and read larger areas of the genome. That is why we have several strategies:
The appearance and implementation of all these clinical techniques has led to giant leaps in the genetic diagnosis of many diseases, including dystonia and other movement disorders.
When we talk about genetic diseases we must be aware that the alteration is present in all the cells of our body and cannot be eliminated. New gene therapies focused on correcting the genetic error in some neurological diseases have been in development over the last few years.
Autism spectrum disorder is a neurodevelopmental condition with an estimated lifetime prevalence of 1%. Basic symptoms include a lack of social communication, restricted or repetitive interests and activities, and sensorial anomalies starting during early childhood.
Autism was described for the first time in 1943 by the child psychiatrist Leo Kanner. Currently, according to the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), the term Autism Spectrum Disorders refers to all those conditions that involve a lack of social communication, restricted or repetitive interests and activities, and sensorial anomalies starting during early childhood. All these conditions start to appear in early childhood even if they do not fully manifest until the person’s limited capacities stop them from responding to social needs.
Depending on the severity of the symptoms and the level of assistance required by the person, three different levels of intensity have been described (Level 1: requires help, Level 2: requires significant help, Level 3: requires large amount of help). It is important to determine whether the person also has an intellectual disability or language difficulties, if they are linked to a known medical or genetic pathology or environmental factor, if they are associated with another mental or behavioural neurological development condition, and if they are associated with autistic catatonia.
Genetics plays a fundamental role in the aetiology of autism spectrum disorders, together with pre-labour and neo-natal risk factors.
The common symptoms of all autistic spectrum disorders are:
Issues with socio-emotional reciprocity, non-verbal communication, and the development, maintenance and understanding of social relationships. And then, at least two of the following:
a) stereotyped or repetitive movements, use of objects, or speech.
b) cognitive rigidity
c) restricted interests and
d) hyper- or hypo-reactivity to sensorial stimulus or an unusual interest in the sensorial aspects of their surroundings
Autism spectrum disorders can be observed in people from around the world from all types of racial, ethnic and socio-economic groups. This disorder occurs 4 times more frequently in boys than in girls.
Diagnosis is based on observation by a child psychiatrist and paediatric neurologist.
An evaluation by a multidisciplinary team is also recommended. It is necessary to include an evaluation of the individual, an interview with his or her carers or other informants, information from the school or workplace, and to perform a cognitive and linguistic evaluation. Furthermore, a medical examination (blood and genetic tests and CAT scan) should be carried out in cases where a specific aetiology is suspected. Genetic tests can detect an aetiological cause in up to approximately 10% of cases.
At this stage, there is not enough scientific evidence to routinely recommend a specific pharmaceutical drug to address the symptoms of ASD. However, there are effective pharmaceutical drugs to treat the medical or psychiatric comorbidities that commonly occur with these disorders.
It is important to begin psychotherapeutic treatment as soon as possible, as well as to adopt educational strategies in the classroom in line with the seriousness of the psychiatric disorder.
Early detection, psychotherapeutic treatment and various educational approaches substantially improve the learning and social behaviour of the person affected, helping them to have an everyday quality of life with a certain degree of autonomy and independence.
Research into the brain’s structure and connectivity in parallel with genetic studies is paving the way towards being about to think more about effective treatments for this disorder. In fact, there are currently various clinical trials under way whose therapeutic target is the basic symptoms of ASD.
There is a series of clinical trials that can help rule out other associated presentations or a specific aetiology such as electroencephalography and CAT scans, as well as analytic tests to rule out metabolic illnesses. A genetic test is required if there are suspicions of a specific genetic alteration.
Visits to the paediatrician to monitor the evolution of a healthy child are fundamental for early detection.
The Inherited Heart Disease Unit is basically devoted to providing care. We have a team of two cardiologists, three interns and two nurses, one full-time and one part-time. This Unit addresses all myocardiopathies in general, and inherited cases in particular.
Myocardiopathies are diseases where the myocardium is weak, dilated or has some other structural problem. Often, the heart is unable to pump or work properly. In the case of inherited myocardiopathies, due to the fact they are often treated as part of uncommon diseases, specialist management is not within the scope of all clinical cardiologists. It requires specific treatment and involves specific technology.
Analytical testing provides a lot of information which enables the origin and severity of the kidney disease to be established. A kidney biopsy allows a microscopic study that is often essential. Genetic testing also provides very important information.
These tests serve to determine the origin of the kidney disease. There are many causes that may be genetic or acquired via a bacterial or viral infection, or resulting from a metabolic disease (diabetes) or an autoimmune disease such as lupus.
In addition to blood and urine tests, a kidney biopsy and/or a genetic analysis, imaging tests can also be useful.
A kidney biopsy may produce minimal bleeding that almost always stops by itself. If it doesn't, it can be controlled using an interventional radiology procedure, whereby the kidney is catheterised to close the area of bleeding. Genetic testing is increasingly used to decrease the need for a kidney biopsy. However, kidney biopsy continues to be the main diagnostic method for kidney disease.
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.
The kidneys benefit from a healthy diet, from a relatively high intake of water and from avoiding tobacco. Regular bowel and bladder movements are also essential. Constipation and delaying urination are both damaging to kidney function. Plain water without anything dissolved in it is necessary for good kidney function, apart from liquids such as milk and broth and drinks such as tea and coffee. The amount of urine a healthy person produces varies depending on how much water they drink, the air temperature, whether they are at rest or doing exercise, etc. A healthy adult would normally required 1 to 2 litres per day. Kidney function does not necessarily improve if excessive water is consumed.
Exercise and a diet rich in fibre encourage healthy bowel and bladder movements and improve kidney function. In terms of related conditions, often diabetes, good metabolic control of the diabetes is essential to preserve good kidney function. Controlling arterial pressure, which often has an unknown cause, is also vital to maintain good kidney function.
Patients with Asperger’s syndrome need a stable and predictable environment that can be easily adapted. It is key to their well-being to establish routines according to their interests, organise their time, avoid inactivity or over intense activity as well as sudden changes. Although the syndrome has no cure, appropriate treatment and involving family members can improve the quality of life of patients.
People with Asperger’s syndrome may have different requirements depending on their age, surroundings and the awareness that they have of their difficulties. For this reason, they need a tailor-made programme that responds to their specific case.
The aim of these customised programmes is to:
It is important to manage their development through different disciplines. These may include cognitive treatments, social skills programmes and occupational therapy for the patient. You also have to consider guidelines on how to resolve conflicts and how to manage pyschoeducational groups for families or caregivers.
In infants, from an emotional and attitudinal point of view, it is important to learn to identify the warning signs in their mood. In this way, we can prevent difficulties in anger management and low tolerance to frustration, since they are patients with a high degree of sensitivity to criticism. Avoid punishment as much as possible and establish more positive reinforcement strategies.
All these guidelines must be established in a space where the differences the child or adolescent presents are valued positively, including their limitations, but also their possibilities and positive aspects.
In adults, many of these characteristics continue, as Asperger’s cannot be cured. In any case, personalised treatment, involving family members and good communication with professionals can allow a better quality of life.
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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