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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
Juvenile idiopathic arthritis (JIA) is a chronic disease characterised by persistent inflammation of the joints that begins before the age of 16.
There are various types of JIA which can be identified by the number of joints affected and the presence of symptoms such as fever and skin manifestations, amongst others. The diagnosis is made by observing the symptoms during the first 6 months of the disease.
The main symptoms are pain, swelling and increased heat in the joints, with stiffness and difficulty moving. Sometimes the beginning is slow, insidious and progressive. The child may be tired or irritable, if they are younger. Older children may notice stiffness when moving their joints when they get up in the morning. At other times, the beginning is acute and serious, with the presence of general symptoms such as general malaise, fever, blemishes on the skin and several swollen joints.
JIA is a relatively rare condition that affects 1 or 2 children in every 1,000.
JIA diagnosis is based on the presence of persistent arthritis and carefully excluding any other condition by using the clinical history, physical examination and blood tests.
JIA is considered where the condition begins before the age of 16, the symptoms last for more than 6 weeks and other conditions that may be responsible for arthritis have been discounted.
The treatment must be put in place early and each child must be considered individually, which means that the therapy will have different levels of intensity depending on the type, time and seriousness of the condition.
Its aim is to care for the child’s all-round physical and psychological development, to try and improve all aspects of their quality of life.
To ensure that there are no after-effects, or that these are minimised, there must be ongoing effort and close collaboration between the child and their parents or family and the various specialists. It is essential that the family understands this disease. The child will begin to learn about it according to their age.
When it comes to diagnosis, certain analytical tests are valuable, along with examinations of the joints and eye tests for a better definition of the type of JIA and identification of the patients at risk of developing specific complications, like chronic iridocyclitis.
The rheumatoid factor (RF) test detects this autoantibody which, if positive and found persistently in high concentrations, indicates a subtype of JIA.
Antinuclear antibodies (ANA) usually test positive in tests on patients with early onset oligoarticular JIA. The population of patients with JIA has a greater risk of developing chronic iridocyclitis and, therefore, eye tests using a slit lamp should be scheduled (every three months).
HLA-B27 is a cellular marker which tests positive in up to 80% of patients with arthritis associated with enthesitis. In contrast, it is only positive in 5%-8% of healthy people.
Other examinations are valuable, such as the erythrocyte sedimentation rate (ESR), or C-reactive protein (CRP), as these measure the degree of general inflammation. Nevertheless, diagnostic and treatment decisions tend to be based more on the clinical manifestations that appear rather than the analytical tests.
Depending on the treatment, patients may need periodic tests (such as haemograms, liver function tests, or urine tests) to check for treatment side effects and any pharmacological toxicity that may not show any symptoms. Joint inflammation is mainly assessed by clinical examination and, sometimes, using imaging studies, such as ultrasound. Periodic X-rays or magnetic resonance (MRI) scans can be helpful in assessing bone health and growth and in personalising the treatment.
Associació Espanyola de Febre Mediterrània Familiar i Síndromes Autoinflamatoris
FEDER
Lliga Reumatològica Catalana
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:
Sarcomas are an uncommon type of cancer that account for only 1-2% of all tumours in adults. They also represent a complex entity, given that there are more than 70 types, with differences in terms of their diagnosis, prognosis and treatment. Accordingly, sarcoma patients need to be assessed by multidisciplinary committees with vast experience in this disease.
Sarcomas are a set of rare tumours whose origin lies in the soft tissues of the body or the bones.
Soft tissues include muscles, nerves, vessels and fat. These tissues may also form part of organs.
The infrequency of sarcomas makes it necessary to handle clinical cases and their treatment on an individual basis, which generally involves a decision-making process that is shared by several professionals with expertise in this disease and the patients themselves.
The correct diagnosis of a sarcoma and its specific type is the first critical step to be taken, as it will form the basis of the clinical handling of the patient, as well as the precise information about the nature of their disease.
In contrast to many cancers, sarcomas do not usually generate symptoms in their early stages of growth. This is because they develop in areas of the body in which they can progressively grow by pushing against structures and organs.
The first symptom may be a painless lump. The majority of lumps are benign, but if it grows quickly, hurts, is deep and/or measures more than 5 centimetres, it is more likely to be a sarcoma. Sometimes the symptoms may appear as a result of excessive compression of the body’s various tissues and organs.
There is no clear factor that triggers a sarcoma. Certain inherited genetic syndromes may predispose a person to being more likely to develop a type of sarcoma, such as Li–Fraumeni syndrome, neurofibromatosis or familial adenomatous polyposis.
One of the most important steps is to confirm the clinical suspicion of sarcoma and identify its specific type. This requires a biopsy to obtain a fragment of the tumour so it can be studied by Pathological Anatomy.
It is sometimes diagnosed with molecular techniques in association with radiological tests like x-rays, computed tomography (CT), magnetic resonance imaging (MRI) or PET-CT.
The treatment of all sarcoma patients is always agreed by multidisciplinary committees composed of professionals with expertise in sarcomas from a variety of the services of our centre: Medical Oncology, Radiation Oncology, Traumatology, General Surgery, Radiology and Pathological Anatomy.
Given that sarcomas may arise in any part of the body, occasionally other specialists may also participate.
The treatment of sarcoma patients may include:
The most suitable procedure depends on a number of different factors in addition to the specific type of sarcoma. Targeted therapy and immunotherapy play a very important role in certain types of sarcoma. Finally, there are also clinical trials that experiment with new therapies.
The commonest are radiological tests like those described above (x-ray, CT, MRI and PET-CT).
As there is no specific cause of sarcomas, in the majority of cases there are no specific measures that can be taken beyond the usual healthy living habits recommended by the World Health Organization.
Patients with inherited genetic syndromes, however, are advised to undergo monitoring in specialist units.
Aortic pathologies include all of the diseases that affect the aortic artery. The aortic artery is the largest and most important artery in the body, emerging from the heart and carrying blood to the rest of the body. This artery can be divided into four parts: aortic root, ascending aorta, aortic arch, and descending aorta. Each part can have its particular pathologies and, equally, different treatments.
The symptoms of aortic pathologies are highly variable and depend on which part of the aorta is affected.
If something is wrong with the aortic root, this can trigger a failure of the aortic valve, leading to symptoms of left-sided heart failure and shortness of breath, chest pain, and/or palpitations.
Lesions of the ascending aorta, aortic arch, and descending aorta are usually chronic and most of the time do not cause symptoms. Only in cases of an acute injury (aortic dissection, haematoma, or rupture) will the patient experience sudden thoracic or abdominal pain.
Aortic pathologies can affect people ranging from newborns to the elderly, with no differences in prevalence by gender. There are risk factors that increase the incidence of this group of disorders: high blood pressure, connective tissue disorders (Marfan syndrome, Loeyz-Dietz syndrome, etc.), and a malformation of the aortic valve, among others.
A correct individual and family medical history is needed to diagnose these pathologies. It is also essential to carry out imaging tests such as an echocardiogram, CT angiography of the aorta, and/or an MRI.
It is essential to know, understand, and control the risk factors that increase the incidence of these pathologies. The definitive treatment consists of replacing the affected part of the aorta or, in some specific cases, endovascular treatment with the placement of a stent.
These patients typically need a transthoracic or transoesophageal echocardiogram, a CT angiography, and they often need an MRI.
It is possible to prevent these pathologies by controlling blood pressure and correctly monitoring the affected aorta with imaging tests to detect changes in size or possible complications over time.
The Vall d’Hebron Hospital has a multidisciplinary Aorta Unit made up by the Cardiac Surgery, Cardiology, Vascular Surgery, and Radiology Departments. This Unit holds regular meetings to present its newest cases and to follow up on known cases, making therapeutic decisions as a team.
All of the professionals in the aforementioned specialities participate in the treatment of this disease.
Adult congenital heart diseases are pathologies that are caused by heart defects, and they are usually diagnosed during childhood. These patients are closely monitored by the Adult Congenital Heart Disease Unit (UCCA) starting from the time of their diagnosis.
The symptoms of these pathologies vary widely, depending on the structure(s) affected. They are often highly complex pathologies that involve, in addition to the malformation, a haemodynamic situation that’s different from the physiological situation and that limits or disrupts the patients’ lives.
These illnesses are present in patients from birth, even though they are sometimes not diagnosed until adulthood.
The diagnosis of these disorders is highly variable, depending on the type. However, they require, in addition to a correct medical history and physical examination, heart imaging tests such as an echocardiogram (transthoracic or transoesophageal), MRI, CT angiography, or other diagnostic tests such as cardiac catheterisation.
Medical treatment is important to improve the symptoms of these affected patients. However, most of them require one or more corrective surgeries at some point in their lives.
There is no way to prevent a congenital heart defect. In recent years, however, the focus has been on developing prenatal diagnostic techniques.
The Cardiac Surgery Department and the Adult Congenital Heart Disease Unit within the Cardiology Department work in collaboration.
We implant, change out, and remove the cardiac stimulation devices needed for pathologies that involve the heart rhythm. Heart rhythm can be affected in different areas of the heart, and in most cases the solution to the problem is to implant a cardiac stimulation device like a pacemaker. At the same time, these systems sometimes need to be replaced or removed
The symptoms of heart rhythm disorders can range from dizziness to syncope (fainting). Apart from this, there are also cases where the device gets infected, and these will present with symptoms of local infection (redness, warmth, oozing, etc.) or symptoms of generalised infection (fever, chills, dysfunction of other organs, etc.).
Heart rhythm disturbances can affect patients ranging from newborns (congenital problems) to the elderly, and they are more frequent in patients over 70 years old.
A diagnosis is made by obtaining a correct medical history and performing a physical examination, in addition to the most important procedure, an electrocardiogram or Holter monitor test (an electrocardiogram for 24 hours).
There are heart rhythm disturbances that can be treated medically, but the vast majority of cases require invasive procedures such as ablations and implanting/removing cardiac stimulation devices.
In our Department, we have a unit dedicated exclusively to treating these pathologies and we are a referral centre for the removal of cardiac stimulation devices, which is mostly required due to infections related to the device. We are considered the benchmark centre for the removal of these devices, covering a larger health area for referrals for this pathology than for any other.
The most common tests are the electrocardiogram and the 24-hour Holter monitor test.
There is no way to prevent heart rhythm disorders.
The Devices Unit within the Cardiac Surgery Department and the Arrhythmia Unit within the Cardiology Department work in collaboration to treat this disorder.
All of the professionals in the departments mentioned above.
Vascular disease is an illness that affects one or more valves of the heart. There are four valves in the heart, and these separate the various cavities within the organ. The prevalence of valvular disease has increased in recent years due to it being common among older people.
The symptoms of vascular disease depend on which valve is affected. If the affected valve is on the left side of the heart (aortic or mitral valve), the most frequently seen symptoms are left-sided heart failure, difficulties breathing, a decrease in exercise tolerance, and the need to sleep with pillows, among others.
On the other hand, if the affected valve is located on the right side of the heart (pulmonary or tricuspid valve), the most common symptoms are right-sided heart failure, oedema in the legs, an enlarged liver, and an accumulation of fluid in the abdomen, among others.
Valvular disease can affect patients ranging from newborns (congenital conditions) to adults. Currently, the most commonly seen patients are those over seventy years old, since the most frequent causes of valvular disorders today are degeneration and/or calcification. The occurrence of this disease is evenly distributed between men and women.
In order to diagnose valvular disease, a complete medical history and physical examination are required. After these steps, however, the definitive diagnosis is reached by performing an echocardiogram. With this echocardiogram, we can both see the affected valve and carry out a comprehensive evaluation of the rest of the structures in the heart.
Medical treatment for this disorder is useful only to ease and improve symptoms; the definitive treatment would be to replace or repair the affected valve.
Valve replacement or repair is mostly done surgically. However, there is the possibility of performing a percutaneous treatment, a technique that is usually reserved for patients deemed too high-risk for invasive surgery.
The most commonly performed test in these patients is an echocardiogram, which can be transthoracic or transoesophageal. This test is useful to both diagnose and monitor this disease.
The prevention of this disease consists of avoiding cardiovascular risk factors, even though there is not a direct relationship between these and the presence or severity of valvular disease.
Vascular disease is treated jointly by the Cardiac Surgery Department, Clinical Cardiology Department, the Echocardiogram Unit, and the Haemodynamics Unit.
The entire Cardiac Surgery Department, the Haemodynamics Unit, and the Clinical Cardiology Department.
The coronavirus SARS-CoV-2 is a virus known as acute respiratory syndrome coronavirus 2 that was first observed in Wuhan (Hubei, China) in December 2019. This new virus is the cause of an infectious disease, known as COVID- 19, which causes respiratory infections to people. In most cases, eight out of ten, the symptoms are mild.
It is important to contact 061 in case of fever, cough, shortness of breath and if you have traveled or have been in contact with a person from the highest risk areas. The World Health Organization (WHO) has declared the SARS-CoV-2 coronavirus as an international public health crisis.
Coronavirus is a family of viruses that circulates among animals. Some types of coronaviruses can also affect people, causing respiratory infections, such as the coronavirus SARS-CoV-2.
In 80% of cases, the symptoms are mild and can be confused with those of a flu:
These symptoms may appear gradually accompanied by nasal congestion or sore throat. Moderate cases may be accompanied by a feeling of shortness of breath and, in the most severe, the infection causes more severe complications, such as pneumonia.
According to current data, there are people who have become infected but have not developed any symptoms or are ill. Although in most cases the symptoms are mild, some people, with a more severe prognosis, have died.
The SARS-CoV-2 coronavirus can infect anyone, regardless of their age. Even so, two groups with greater risk have been detected:
The risk of infection is higher in those areas where there are cases of SARS-CoV-2 coronavirus diagnosed. Therefore, everyone needs to take protective measures, such as maintaining good hand hygiene or covering their mouths with their elbows or with a tissue when coughing.
Studies conducted so far suggest that the SARS-CoV-2 coronavirus is transmitted by air, from person to person, through droplets from the nose or mouth that are spread when an infected person coughs or exhales. Contagion occurs when these droplets are exhaled by a healthy person or when they fall on an object or surface that the person subsequently touches and then, without disinfecting the hands, touches the eyes, nose or mouth.
Between infection with the virus and the appearance of the first symptoms of the ailment, it is estimated that there may be an incubation period of between one and fourteen days. On average it is estimated that this is five days.
The diagnosis is made through a specific COVID-19 detection test.
Currently, there is no specific treatment for SARS-CoV-2 coronavirus, only supportive treatment. In milder cases, the treatment is similar to the flu: pain relievers to control fever and stay properly hydrated.
In the most severe cases, if the patient requires ventilatory support, due to pneumonia or respiratory failure, the patient is admitted to the ICU.
In addition, clinical trials are being conducted to find a specific vaccine or drug treatment to predict or treat COVID-19.
Syphilis is a sexually transmitted infection caused by a bacteria called T. pallidum. It can have very serious complications if left untreated, but, fortunately, it is easily cured with the right treatment.
Detection and treatment of this disease is carried out by an expert medical team at the STI Unit of the Drassanes Vall d'Hebron Centre for International Health and Infectious Diseases and the HIV-STI Unit at Vall d’Hebron University Hospital.
You can catch it by having unprotected oral, vaginal, and/or anal sex with someone who has syphilis. In pregnant women, it can be transmitted to the baby through the placenta.
Syphilis manifests in different stages.
In the first stage, a chancre (an ulcerated lesion that is painless and thus can go unnoticed) appears in the area of first contact with the bacterium, such as the mouth, penis, vulva/vagina, or anus/rectum.
If not treated, it will progress to the second stage, known as secondary syphilis. At this stage, skin lesions are the most common sign, with erythematous lesions that affect the palms of the hands and the soles of the feet. However, it can cause many other symptoms, such as fatigue, sore throat, and even eye problems.
If left untreated, the infection can enter a latent period that can last for years, in which there are no symptoms and the only way to diagnose it is by doing a blood test.
The latent stage of syphilis has two phases: the early stage, during the first year, and the late stage, which occurs after a year of being infected. Long-term, 20 to 40 years later, a certain percentage of patients will exhibit neurological symptoms (cognitive impairment or neuropathic pain in the lower extremities) or heart issues (aneurysm). However, if these patients receive treatment with the right antibiotics, the syphilis infection can be cured at any stage. Nowadays, it is very rare for this disease to reach late stages.
In pregnant women, it can be transmitted to the foetus, which can trigger a miscarriage or a serious disease like congenital syphilis in the newborn. Thus, every pregnant woman should be screened for syphilis and treated if the test comes up positive.
The diagnosis is often done with a blood test, which looks for the antibodies generated in response to the infection. If there is a lesion, direct tests can be carried out on it to detect the presence of the bacteria.
The treatment of choice is still the intramuscular injection of penicillin. The number of injections required can vary depending on the stage of the disease, ranging from a single injection to three (one per week). If there are symptoms, the patient may run a fever during the first 24 hours following the injection.
The treatment is considered a definitive cure, but follow-up blood tests should be done periodically to confirm that the infection is gone.
Even though antibodies can be detected in the blood after treatment, if the individual comes into contact with T. pallidum again, they can be reinfected and experience a new bout of the disease.
If you are diagnosed with syphilis, you need to notify the people you have had sexual contact with in the past months. The number of months will depend on the stage the disease is in when it is diagnosed. If it is diagnosed during the first stage, you should contact the people you have had sexual relations with in the past 3 months. If this diagnosis occurs during the second stage, this time frame needs to be extended to 6 months.
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