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.
Kidney disease encompasses a wide range of conditions that compromise the normal functioning of the kidneys. Their main purpose is to purify the blood of different composites, regulate their composition of mineral salts and acidity and contribute to the normal formation and maintenance of bones. They also support the creation of red blood cells and regulate arterial pressure. Kidney disease is characterised by a change in the functions described: higher levels of urea in the blood, excessive potassium or phosphorus, excessive blood acidity, bone pain and anaemia.
Kidney disease is measured by the stage of renal insufficiency, which increases from 1 to 5; the most advanced stage at which the kidneys have ceased to function. During stages 1 to 4 there are different medical treatments that can slow or compensate for renal insufficiency. At stage 5, patients have to undertake extrarenal purification techniques such as haemodialysis or peritoneal dialysis. In this case, the possibility of a kidney transplant will always be considered, which would allow a normal life free from dialysis but would require taking immunosuppressant medication to prevent rejection of the transplanted organ.
Renal insufficiency is usually detected with a simple blood test. Symptoms tend to be tiredness and generally feeling unwell caused by a build-up of urea, anaemia or both factors together. The patient may also have a headache if their arterial pressure is high.
All age groups. In childhood, there is often a genetic cause. In adults, it may be due to other illness such as diabetes, immune diseases or infectious diseases. It may also manifest due to the late appearance of genetic diseases in adults.
Renal insufficiency is diagnosed with a simple blood test. Establishing the cause of the renal insufficiency is more complicated. Often, a kidney biopsy and genetic testing will be needed.
Typical tests include blood tests, ultrasound, nuclear magnetic resonance imaging, kidney biopsy and genetic testing.
Initial treatment consists of substituting or compensating for the aforementioned alterations. During later stages, haemodialysis or peritoneal dialysis may be used, and in the case of terminal renal insufficiency, a kidney transplant may be carried out; from a deceased or a living donor.
Drinking a reasonable amount of water a day contributes to good kidney function.
Minority diseases, also called rare diseases, are those that affect between 5% and 7% of the population. They are very varied, affecting different parts of the body with a wide range of symptoms that change both between diseases and within the same disease. It is estimated that some 30 million people in the EU, 3 million in Spain, and around 350,000 in Catalonia suffer from one.
The complexity of most rare diseases requires multidisciplinary care with professionals from different medical specialities, case management for nursing, psychological support and also social work.
The Vall d'Hebron Barcelona Hospital Campus is home to more than 100 specialist professionals dedicated to the care of more than 2,000 rare diseases. Apart from treating the most rare diseases of any centre in Spain, it is one of the leading hospitals in Europe in this field. In fact, Vall d'Hebron is part of 20 European reference networks, known as ERN. This makes this hospital a highly specialised centre for rare diseases, from birth to adulthood, through a networked system that allows sharing of resources and knowledge with other world-class hospitals.
Adult and child
Pediatric
This concentration of patients with rare diseases at Vall d'Hebron improves knowledge and promotes research. Research in this field focuses above all on improving diagnostic capacity for diseases that are often difficult to diagnose and on developing new treatments for those diseases. In the case of diseases with few patients, publicly funded research is often the main avenue for the discovery of new drugs, and public health is the framework that provides the public with access to high medication complexity.
For more information, contact the Rare Disease Team at the following email address: minoritaries@vallhebron.cat
Hereditary metabolic diseases (HMDs) are a group of rare genetic disorders. The genetic defect causes a structural alteration in a protein that is involved in one of the metabolic pathways, causing it to block the affected pathway. As a consequence, this causes a build up of substances that may be toxic for the body and a deficiency of others that it needs.
Hereditary metabolic diseases (HMD) are chronic progressive multi-system illnesses that may appear at any age and that in most cases pose diagnostic and therapeutic challenges. Our Unit has been recognised as a leader within Spain (CSUR) and Europe (ERN) for this pathology and takes part in the neonatal screening programme in Catalonia. We are the only centre in Catalonia to offer complete care from paediatrics to adults with particular expertise in lysosomal storage disorders.
HMDs are divided into:
- Intermediary metabolism HMD: usually with acute symptoms.
- HMD related to the organelles (lysosomal storage disorders, peroxisomal diseases, mitochondrial disorders and endoplasmic reticulum storage diseases): chronic presentation with no decompensations (with the exception of some mitochondrial disorders)
Multiple systems in the body are affected and different organs and systems are involved with varying symptoms depending on the disorder and the patient’s age. These disorders require a coordinated approach to care and programmes to manage the transition to adulthood.
Many symptoms become evident during childhood in the form of delayed physical growth and delayed psychomotor development. There may be associated heart problems, kidney conditions, and at times decompensations leading to liver or kidney failure and neurological impairment. In the case of organelle disorders, symptoms are chronic and affect the bones and organs of the senses in greater measure. They are more common in adults than intermediary metabolism disorders.
Diagnosis is carried out by:
They are chronic disorders that need to be treated in specialised centres with multidisciplinary teams to provide support for all related health problems.
The following may be necessary, depending on the type of disorder:
Prevention consists of thorough genetic and reproductive counselling if there is a family history of the disease. Early diagnosis of some diseases through the neonatal screening programme enables effective treatment and improved prognosis.
Alzheimer’s disease (AD) is the most common neurodegenerative disease worldwide. First described in 1906, it was known for years as senile dementia, but today we know that most cases of senile dementia are AD. WHO data states that it affects over 50 million people worldwide and this is set to triple by 2050. It is the main cause of disability in the elderly and the second specific cause of death in Spain.
In certain areas of the brain of someone with Alzheimer’s, two proteins (amyloid-beta and tau) are progressively produced over several years, forming deposits that eventually damage and destroy the neurons, leading to the progressive loss of higher-level cognitive brain functions such as: memory, language (aphasia), the ability to perform learned motor functions (apraxia), and to recognise different sensory stimuli (agnosia), reasoning and judgement, and changes in mood, behaviour and personality. Although the etiology of the disease is unknown, we do know of many factors that contribute to its appearance.
AD manifests in various ways. The signs and symptoms are specific to each individual and the characteristics of how the dementia develops will be different for each person.
Most patients (85% of cases) present the typical form (amnestic or hippocampus), which starts with the symptom of episodic progressive memory loss in relation to recent events and difficult taking in new information, and thereby losing the ability to adapt to new situations. Discrete constructional apraxia. Loss of fluidity of speech with normal comprehension. Early and persistent depression, anxiety or apathy (most common), with a substantial decline in initiative, motivation and interest, and with indifference and passivity.
In the mid stages, the disease presents loss of remote memory. Temporal and spatial disorientation. Ideomotor and ideational apraxia occur as well as constructional apraxia. Speech continues to worsen and comprehension issues are added to the loss of fluidity and anomia. Visual and body image agnosia (somatagnosia) develops. The mid stages are when sleep and psychiatric disorders are most evident, including becoming agitated at night, being restless, delirium (being unable to distinguish what is reality: delusional jealousy, confusing TV programmes with real life) and hallucinations (false sensory perceptions: hearing voices, seeing insects).
In the late stages, patients present severe agnosia, a loss of bladder and bowel control, become mute or almost mute, and present motor function alternations such as overall stiffness and a stooped posture. Approximately 10% present epileptic seizures. All patients show obvious weight loss during this final stage.
In around 15% of patients with AD, memory may be relatively preserved until the late stages. These are atypical forms or variants (without memory loss in the early stages) which may present in three forms: with behavioural or personality changes, with visuospatial alterations, or with changes to language as the earliest and predominant symptom of the disease. As it progresses, the other symptoms described as the typical form of the disease also appears. These atypical forms of AD are more common in cases where the onset occurs at a younger age.
Daily activities (DA) are progressively affected: first there is a reduction in work and social activities (advanced daily activities); followed by changes to everyday activities (handling domestic objects, money, cooking, housework), and in the late stages, basic daily activities are affected (washing, dressing, eating, bladder and bowel control). In the final stage, patients enter a vegetative state and die as the result of an intercurrent illness: the time from diagnosis to death is usually around » 5-10 years.
The prevalence and incidence of the disease increases after 65 years of age. It therefore affects 5% of the population over 60, 20% of those over 80 and 30% of those over 90. In Spain there are 800,000 people with the condition. The real figure is undoubtedly much higher, however, as the first symptoms are sometimes difficult to distinguish from those that naturally appear with age. For this reason it is an underdiagnosed disease, with around 1 in 3 people with AD believed to be undiagnosed.
Fewer than 5% of cases of AD are hereditary. This is known as familial or inherited AD and occurs through autosomal dominant inheritance. The clinical picture includes an earlier onset of the condition (before 65 years old) and a faster evolution.
The remaining 95% (sporadic AD) present the combination of risk factors for the development of the disease together with genetic alterations, together making the patient susceptible to the disease.
Apart from genetic factors, other risk factors for developing the disease are: ageing; gender (from 65 it is more common in women); vascular risk factors such as high blood pressure, diabetes or obesity; lifestyle (smoking, alcohol, lack of physical activity, lack of intellectual activity, little social interaction); previous head injuries, and chronic sleep disorders. People with Down syndrome (trisomy 21) have an extra copy of the gene that encodes the amyloid precursor protein (APP) making them more susceptible to AD at a younger age. Chronic sleep problems increase the risk of AD. Interrupted sleep increases levels of the amyloid-beta and tau protein.
Due to the fact that pathological alterations (amyloid deposit following tau) begin in the brain 15-20 years before symptoms appear, there are currently considered to be 3 stages of the disease:
Although there is currently no cure for the disease, there are treatments that can delay or slow the progression of the disease for a time, improving quality of life for these people. Drug treatments are: cholinesterase inhibitors (rivastigmine donepezil, galantamine) that act to facilitate cholinergic neurotransmission and are licensed for the symptomatic treatment of light or moderate AD, and memantine, a non-competitive glutamatergic NMDA receptor antagonist, which decreases levels of glutamate (an excitotoxin that destroys neurons when released chronically and in excess) and is licensed for the mid and late stages of the disease.
In addition to these treatments, proper management of lifestyle factors is very important, such as: correcting any hearing loss, reducing smoking and drinking, proper management of blood pressure and diabetes, a balanced diet, avoiding obesity, doing regular physical activity, preserving and encouraging social contact. Together with the above, cognitive stimulation is useful during a large part of the progression of the disease.
There are currently 400 studies assessing the efficacy and safety of different treatments in patients with AD.
Known preventions strategies work on the risk factors for the disease: healthy habits, controlling vascular risks (high blood pressure, diabetes, etc.), a higher level of education, changes to lifestyle (essentially increasing physical activity) giving up toxic habits (smoking and drinking). All of the above can reduce cases of AD by 35-40%, or at least delay its onset.
Education and mental activity stimulate the connections in the brain and increase the cerebral reserve capacity, so it is very important to remain mentally active.
The Dementia Unit in the Neurology department is in charge of diagnosing and looking after patients with Alzheimer’s. The unit includes neurologists with expertise in diagnosing and managing the different pathologies that can occur with dementia (changes to cognitive and behavioural functions that result in changes to daily life) as the main manifestation. Neuropsychologists, nurses and social services and healthcare staff also play a very important role in the Unit.
Other units and departments involved in the diagnosis and monitoring of these patients are: Primary Care, Nuclear Medicine, Neuroradiology, Psychiatry, Pathological Anatomy, Genetics.
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.
The concept of resistant osteoarticular infections encompasses all procedures on patients with infections that have not responded to previous medical and surgical treatment. These procedures may be changing prostheses or treatment for chronic osteomyelitis or septic pseudoarthrosis among others. The Musculoskeletal System Septic Pathology Unit also treats many of these patients from the start due to the complexity of their condition.
The different types of resistant osteoarticular infections treated in the unit are:
Osteomyelitis/osteitis of haematogenous origin and which are resistant to medical and surgical treatment:
Chronic osteomyelitis or septic pseudoarthrosis derived from trauma or surgical interventions. Those resulting from open fractures, typically in the tibia, are often accompanied by loss of bone or the cutaneous covering. Exact incidence rates are not known, but the more exposed the bone has been, the higher the chances of chronic infection.
Periprosthetic infections. This type of infection occurs in 1-3% of primary arthroplasty procedures. In some cases, the only obvious symptom may be pain. The presence of a fistula or the isolation of a pathogen microorganism in different samples is used to confirm diagnosis. The most common treatment is to change the prosthesis in two separate procedures.
Severe treatment-resistant diseases of the soft tissue (necrotizing fasciitis, gangrene). These are extremely unusual lesions and when do they appear they are often fatal. Excessive localized pain may be the only initial symptom, making it very difficult to diagnose at this stage. When diagnosed, aggressive treatment with antibiotics and surgical debridement can have an impact on survival and the need for amputation.
Patient-related factors (control of additional diseases or disorders) are very important in the prevention of osteoarticular infection, as are those related to surgery (antibiotic prophylaxis), the presence of implants, and tissue condition (bone and cutaneous covering) amongst others.
This type of infection requires a multidisciplinary team as treatment is very complex.
The disease caused by the Zika virus is contracted by a bite from an infected mosquito, as in the case of dengue fever, chikungunya and yellow fever. It can also be spread through sexual intercourse, pregnant women may transmit it to their children, or through blood transfusions. In Europe there are no cases of infection by mosquito; all cases have been imported.
It is disease lasting a short time that can be overcome without complications or the need for admission to hospital. However, there is a relationship between this infection and some neurological disorders. In addition, pregnant women who are infected may give birth to babies with microcephaly.
The incubation period in humans is 3-12 days, up to 15 maximum. Although on many occasions there are no symptoms, when there are the disease is characterised by:
Since 2015, 71 countries have declared transmission of the Zika virus via mosquitoes. In addition, 13 more have stated that the disease has arrived by other means, generally through sexual contact.
In Europe, most cases have been imported from countries where it is endemic, mainly from Latin America but also from South East Asia. In Catalonia in December 2016, there were 150 registered infections, of which 32 were pregnant women.
Between the first seven to ten days of the disease, diagnosis is made using molecular biology techniques (RT-PCR) in blood and urine to detect the virus.
After this period, Zika disappears from the blood and is detected through antibodies in the serum.
There is no specific treatment for this disease. Symptoms generally disappear between three and seven days after infection. They are therefore lessened with analgesics and antipyretics.
There is currently no vaccine for this virus. For this reason, prevention is based on avoiding mosquito bites in countries where it is endemic, as well as using protection during sexual intercourse.
In the case of Catalonia, the risk is associated with the arrival of travellers from countries where it is endemic. Here there is a screening programme for pregnant women and their partners; they are a sensitive group as the virus may be passed to the foetus.
Pulmonary atresia with ventricular septal defect is a rare heart condition characterised by a lack of connection between the right ventricle and the pulmonary arteries.
This is a rare congenital heart defect characterised by no connection between the right ventricle and the pulmonary arteries. It is an extreme type of Tetralogy of Fallot in which blood enters the lungs to be oxygenated by bypassing the heart.
Blood can reach the lungs via the pulmonary arteries themselves, which are not connected to the heart, or via the collateral arteries, which originate from the thoracic aorta and directly supply the lung. There are significant anatomical differences between vessels which must be studied in each individual child.
This condition is very heterogeneous, which creates the variability seen in the pulmonary arteries. Two groups can be distinguished:
The prognosis of this disease depends on the growth of the pulmonary arteries to be able to surgically repair the condition.
It is a rare congenital heart condition which makes up 1-2% of all congenital heart defects.
In most cases, diagnosis is via foetal echocardiogram. This ultrasound will show the lack of connection between the heart and the pulmonary arteries, as well as the presence of VSD. Through this test the size and position of the pulmonary arteries can also be measured.
When a child is born, it has a certain quantity of oxygen, known as “saturation”, in its blood which is around 80-90% of the normal level, although this is enough for the child to develop normally.
The Ebola virus disease (EVD) is a serious infectious disease originating in wild animals. It is caused by a virus of the “Ebolavirus” genus (filoviruses) that tends to occur as outbreaks with a mortality rate of 50%.
The first symptoms are sudden onset of fever, muscle pain, weakness, headache and neck ache. These are followed by vomiting, diarrhoea, decreased function of the kidneys and liver, skin eruptions and haemorrhaging.
In the final phase of the disease, patients experience multiple organ failure which, in some cases may be overcome in the second week of the virus’ evolution and in others may cause death.
It is a contagious disease from the onset of symptoms.
It is a common disease in West and Central Africa. The biggest outbreak occurred in 2014 and resulted in over 11,000 deaths (Guinea, Liberia and Sierra Leone).
The incubation period ranges between 2 and 21 days.
In humans it is transmitted through direct contact with the blood and body fluids of infected people and with objects contaminated with infected patients’ body fluids. It can also be spread through sexual contact up to three months before any sign of symptoms.
It is essential to consider patients’ prior travel epidemiology and contact with others. Definitive diagnosis is carried out in laboratories in specialist centres, where the viral nucleic acid can be detected in biological samples. Before establishing an EVD diagnosis, other infectious diseases should be ruled out such as malaria, typhoid fever, dengue or meningitis.
As yet there is no specific treatment to combat the disease. It is important to keep patients well hydrated and maintain their arterial pressure, as well as provide to other essential life support.
Ebola prevention is based on different strategies:
A vaccination that has shown excellent results is currently in the approval stage.
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