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Haemophilia is a very rare congenital disorder resulting from a lack of clotting factor VIII (haemophilia A) or IX (haemophilia B). Type A affects 1 in 5,000 children and type B affects 1 in 30,000. The gene whose code carries instructions for building the proteins for these factors is located on the X chromosome. For this reason, women carry this genetic mutation but it affects men. Despite this, in most cases there is no family history of haemophilia.
Plasma levels of clotting factor VIII or IX determine the severity of this disorder and classify it as severe, moderate or mild depending on whether levels are below 1%, between 1 and 5%, or over 5%, respectively. Spontaneous haematoma during the first few months of life or caused by minor trauma are the key sign of the severe condition.
Although bleeding can be found in any part of the body, it typically occurs within a joint (haemarthrosis), mainly in the ankles, knees and elbows. It generally appears before two years of age and represents 70-80% of all haemorrhages. Repeated bleeding in the same joint ends up causing irreversible damage that affects function (haemophiliac arthropathy). Intramuscular haemorrhaging is the second most common after haemarthrosis, and intracranial bleeding the most serious.
In moderate cases, clinical signs are similar to those of the severe disorder, apart from spontaneous haemorrhaging; and in mild cases diagnosis is reached by spotting an anomaly in blood clotting tests, by bleeding after a tooth extraction or surgery, or following a familial study.
A suspected diagnosis begins by asking about a patient's personal and family history of bleeding. Basic blood clotting tests show increased time for the blood to clot (activated partial thromboplastin time) and it is confirmed by verifying low levels of clotting factors VIII or IX. Genetic testing refines the diagnosis by identifying the mutation causing the disorder. This procedure can also identify potential carriers and may be used for prenatal diagnosis.
Treatment is replacement therapy, which is the intravenous administration of the deficient factor in the case of acute bleeding, before any aggressive exploratory or surgical procedures take place. Factor VIII and IX concentrates may be human plasma or recombinant engineered using biotechnology. In mild cases, other drugs may be used such as desmopressin, a synthetic derivative of vasopressin.
For cases of severe haemophilia, preventative treatment should be started before two years of age or after the first haemarthrosis in order to avoid serious complications in the joints producing repeated haemorrhaging, and also to act as a preventative treatment against brain haemorrhaging. For haemophilia A, factor VIII must be administered three times a week, and twice in the case of haemophilia B. New treatments being developed will allow infusion therapy to be more spread out in the future.
Plasma and recombinant factors currently effectively and safely control and prevent bleeding. The most serious complication of treatment is the possible appearance of an inhibitor. This appears in 30% of severe haemophilia A and in 2-4% of haemophilia B cases.
Because this is a complex and chronic condition, it is advisable to have a multidisciplinary team that includes specialists in haematology, hepatology, infectious diseases, orthopaedic surgery, physiotherapy and rehabilitation, odontology, obstetrics, genetics, psychology and nursing. Educational programmes to show family members how to administer intravenous treatment at home, prenatal diagnosis and genetic counselling are essential.
Parkinson's disease is a dysfunction of the basal ganglia caused by degeneration of the cells that produce dopamine in the substantia nigra.
It is a progressive neurodegenerative disease of the central nervous system that affects the parts of the brain involved in controlling and coordinating movement, muscle tone and posture.
The prevalence of Parkinson’s in Catalonia is 229 in every 100,000 people.
This is focused on empowering patients and their carers to achieve behavioural changes within their own control and to motivate them to continue treatment long term. It centres on reducing medication and gaining quality of movement. The main goal is functional independence for the individual and general physical condition from the onset of the disease. It is all geared towards minimising secondary complications and the risk of falls.
There are a growing number of studies emphasising that aerobic activity may have a neuro-protective effect. Likewise, during treatment, preventing inactivity, falling and fear of getting around or falling is stressed.
Neuromuscular disease is a chronic illness that results in serious disability, loss of independence, and with significant psychosocial consequences. Respiratory alterations are the main cause of morbidity and mortality in patients with neuromuscular diseases. They are significantly affected by the evolution of the disease and are the reason for multiple hospital admissions where the patient’s life is seriously endangered.
The main causes of respiratory impairment are hypoventilation due to weak inspiratory muscles and a lack of ability to cough due to weak expiratory muscles. Ventilatory support via non-invasive mechanical ventilation or tracheotomy can prevent or reverse ventilatory failure in these patients.
The loss of expiratory strength means that patients are unable to expel bronchial secretions. If the bulbar muscles are also affected and patients run the risk of inhaling saliva, the contents of the mouth or food, this can induce multiple respiratory infections, pneumonia and atelectasis which results in obstruction of the airway and seriously endangers the patient's life.
The combination of non-invasive mechanical ventilation to assist coughing decreases morbidity and hospital admissions for these patients.
There are currently around 60,000 people with the condition in Spain.
In the Cardiorespiratory Rehabilitation Unit, we monitor maximal inspiratory and expiratory pressure (MIP and MEP) and peak expiratory flow (PEF), also known as peak cough flow (PCF) and carry out spirometry.
Treatment goals are focused on controlling the evolution of the ventilatory failure and avoiding or improving episodes of respiratory failure. To achieve these objectives, manual techniques or equipment have to be used. These are techniques to encourage pulmonary expansion, manually assist coughing, and others.
One very important objective is to train the main carer in physiotherapy techniques in order to avoid possible complications in the respiratory system.
Patients have very serious damage to the ocular surface (the cornea, conjunctiva and eyelids) generally caused by chemical burns or an inflammatory disease of the ocular surface such as cicatricial pemphigoid or Lyell’s syndrome.
These disorders of the ocular surface may result in very low visual acuity, irritation and pain. They are conditions significantly affecting the cornea, the conjunctiva and the eyelids; organs essential to maintaining a healthy ocular surface and therefore good vision.
Loss of vision, pain, severe dry eye syndrome, corneal damage and ulcers, infections, and even loss of the eyeball.
Diagnosis is essentially clinical. Changes in the ocular surface may present as corneal ulcers, corneal vascularization or conjunctivalization (normally the cornea tissue has no blood vessels) or due to symblepharon, which are scars that form between the conjunctiva and the eyelids.
Treatments are multiple and spread out, depending on how severely the ocular surface is affected. Natural tear substitutes are used, such as autologous serum or plasma rich in platelets. Surgical options that may be carried out are amniotic membrane grafts, corneal transplants, limbal stem cell transplant (autologous or heterogeneous), eyelid transplant, and in very severe cases, keratoprosthesis.
There is no way to prevent this serious condition of the ocular surface, but early diagnosis and treatment can limit the damage it causes.
Lupus is a chronic immunological disease characterised by the production of antibodies. It mainly affects women of child bearing age, evolves into flare-ups and can affect any organ.
It is characterised by the production of immune complexes found on any organ and that cause inflammation and, in some cases, even organ damage. The cause is unknown but is understood to be down to multiple factors. Genetic, environmental and hormonal factors play a role.
These cause a change to apopstosis (cell death) that means new antigens appear and the innate and the adaptive systems are activated, which are responsible for producing antibodies.
The most common symptoms are: joint pain or arthritis (85-90 %) and skin lesions (70 %), but it may also affect any organ.
Lupus can affect different parts of the body:
Lupus mainly affects women, with a ratio of 9:1 of those affected being of childbearing age, although it may appear during childhood or later in life.
Its is prevalent in 10/10,000 people of Caucasian origin, but is more prevalent and severe among African American and Hispanic patients.
With improved treatment in developed countries, the survival rate is over 90% after 20 years, although the disease’s effects on the renal and central nervous system increase morbidity and mortality.
Diagnosis is founded on clinical suspicion based on the symptoms described and laboratory data showing the presence of antinuclear antibodies and anti-dsDNA antibodies, which are specific to the disease. The criteria provided by the American College of Rheumatology is used for diagnosis. If the patient fulfils 4 of the 11 criteria, they are classified as having systemic lupus erythematosus.
Treatment is specific to each case. In general, anti-inflammatories, cortisone and antimalarial drugs are used. In severe cases, immunosuppressants may be used (Imurel®, methotrexate and mycophenolate, for example), or to avoid flare ups, lasting effects and also reduce the need for corticosteroids. In the last 50 years, only belimumab, or anti-BLys, has been approved for the treatment of lupus.
Unfortunately there is no preventative treatment for lupus. The most important factor to avoid lasting damage is early diagnosis and treatment by experts in the field.
Providing patients with the right information at the time of diagnosis is essential to prevent future complications, as is treatment monitoring.
It is a congenital heart defect characterised by the tricuspid valve sitting lower than normal over the ventricular myocardium, caused by the corresponding atrioventricular ring.
In this case, the right atrium greatly increases its volume and the right ventricle greatly reduces in size and lung flow is not sufficient.
Ebstein’s anomaly encompasses a wide range of defects characterised by different grades of displacement and adherence of the septal valve of the tricuspid valve to the right ventricle chamber. It is a very variable disease that may be severe or mild.
The most serious cases are accompanied by severe cyanosis and congestive heart failure.
In less serious cases, the disease results in a transient period of cyanosis.
This is considered a rare disease and only represents 3% of congenital heart defects. It affects one in every 20,000 live births.
An echocardiogram is used to detect the disease, and to find out if it is associated with anatomical or functional atresia of the pulmonary valve.
The defect is treated with surgery which varies depending on the clinic, the anatomical form of the defect and the age of the patient.
In the case of new-born babies, for example, it is necessary to operate as soon possible. In adolescents or adults with symptoms, it is advisable to repair or replace the tricuspid valve with a prosthetic. If patients have no symptoms the best option is to wait.
Following surgery, 80% of patients diagnosed as teenagers or adults have a very good short to mid term prognosis as their ability to function has improved.
Pulmonary stenosis is a disorder of the heart valve that affects the pulmonary valve, the valve which separates the right ventricle from the pulmonary artery, which is the artery that transports blood to the lungs. Pulmonary stenosis occurs when the valve is unable to open sufficiently and as a result there is less blood flow to the lungs.
Mild stenosis produces no symptoms.
If it is more severe, symptoms may be:
An echocardiogram is the usual way to diagnose the condition. This test assesses the right ventricle, the pulmonary valve, post-stenotic dilatation of the pulmonary artery and pressure gradients through the valve.
Percutaneous pulmonary valvuloplasty is used to treat pulmonary stenosis, and is suitable for patients with a moderate condition over two years old.
In severe cases, percutaneous pulmonary valvuloplasty can be carried out at any age. This procedure is associated with a lower short term morbidity and mortality rate than surgical valvotomy. The procedures have similar long term outcomes.
Valvuloplasty generally attains excellent results. At a 15-year check up, only 4 % of cases need a second procedure. Mild pulmonary valvular insufficiency is well tolerated.
Congenital mitral valve anomalies include a wide range of irregularities in the valves and subvalvular systems. This can cause problems from obstruction to mitral valve insufficiency. Two specific problems can occur: stenosis, which affects children; and congenital mitral insufficiency.
Congenital mitral stenosis tends to appear in the first two years of life,
and congenital mitral insufficiency occurs where there is an excess of liquid in the lung which causes breathing difficulties.
Symptoms of congenital mitral stenosis are:
Congenital mitral insufficiency results in an increase in respiratory infections.
Congenital mitral valve anomalies are rare and make up 0.5% of congenital heart defects.
The disease is detected via echocardiogram, which provides information on the valve’s components. This technique also allows any other associated damage present to be seen.
Congenital mitral stenosis requires different kinds of treatment depending on how severe it is.
Children who have undergone surgery can have a normal life but must be monitored by a cardiologist. However, as the child grows they may need a new procedure to adapt the valve to their growth until they reach adulthood.
In the case of congenital mitral insufficiency, surgical repair or replacement of the valve is necessary in patients with symptoms who have severe mitral insufficiency and do not respond to treatment.
A tumour is an abnormal growth of tissue. In the case of orbital tumours, this growth is located in the tissues around the eye, which may be muscles, bones, fat, the lacrimal gland, nerves and blood vessels. They are rare tumours of several different types that may appear at any age. Orbital tumours may be benign or malignant. Benign tumours may cause pain due to compressing or displacing the different structures in the eye socket. Malignant tumours, on the other hand, as well as spreading to neighbouring tissue, may produce metastasis in other unconnected organs or lymphatic nodules.
The most common symptom is a protrusion of the eyeball out of its socket, known as “exophthalmos”. However it can also cause loss of vision due to compression of the optic nerve, double vision, pain and can limit the movement of the eyeball.
In some cases, tumours may be present in the eye socket for an entire lifetime with no symptoms.
It is hard to know the exact number of people affected by orbital tumours as it is a rare kind of tumour that includes several variants.
Benign tumours are the most common; capillary haemangiomas and dermoid cysts in children, and cavernous haemangiomas in adults.
The most common malignant tumours in children include rhabdomyosarcoma, and in adults lymphoma cancers of the lacrimal gland and metastases.
Imaging studies (CT and nuclear magnetic resonance scans) allow precise location of the tumour, its size to be measured and certain biological characteristics to be known. This information, together with the patient's age and the speed of the tumour's growth, enables an initial assessment of whether or not it is malignant.
A definitive diagnosis is made after a biopsy of part or all of the tumour.
In most cases, the main treatment is surgery to remove the tumour and therefore avoid the damage it may cause if left to grow within the eye socket by compressing or displacing the eyeball and other structures.
Modern-day orbital surgery techniques allow extraction of the tumour by making small incisions in areas that are hidden or not very visible. This enables faster postoperative recovery.
In the case of malignant tumours, different combinations of surgery, radiotherapy and chemotherapy are used. It should be noted that regular check ups are needed after treatment.
Where there are no symptoms, observation and monitoring of the speed of growth is usually sufficient.
There are currently no preventative guidelines to reduce the risk of orbital tumours.
It is a cancer that develops in muscle and soft tissue. It can therefore be found in any part of the body, although most commonly in the head and neck, including the eye sockets. Despite being a rare cancer, as are all tumours in children, it is the most common cancer of the soft tissue found in childhood. This disease is more common in boys than in girls.
Although mainly found in the head and neck, it may also occur in the genitourinary system such as the bladder and prostate in boys and the vagina or uterus in girls. It may also appear in other places such as the limbs (arms and legs) and, less commonly, in the abdomen and around the genitals and anus. Symptoms vary depending on the location of the tumour.
More than half of all soft tissue sarcoma found in children are rhabdomyosarcoma. Most children are diagnosed under nine years old, but this type of cancer can appear at any age.
Different symptoms are produced depending on where tumours are located.
Malignant neoplasms are rare, but they are one of the most important causes of morbidity and mortality in this age group. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Rhabdomyosarcoma represents 6% of cancers in children meaning there are 60 new cases every year in Spain.
The child’s doctor will perform a very careful examination and to reach a diagnosis the doctor will request several tests, which may include:
These tests will help to determine the size and location of the tumour and whether it has spread to any other part of the body.
Rhabdomyosarcoma is a highly malignant type of tumour and must therefore be treated with a combination of therapies including surgery, chemotherapy and radiotherapy.
Each of these treatments is administered depending on the condition of the tumour and the age of the child.
There are currently no known measures to help prevent this type of tumour.
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