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.
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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.
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.
Complex paediatric neurosurgery encompasses a series of pathologies that, due to their complexity, have to be treated in a centre with the necessary technology, professionals and expertise.
Complex paediatric neurosurgery includes:
In general, these are unusual and highly complex diseases. Many are included under the sections for rare diseases. For the best results, they should be treated in large centres that have experience of multiple cases every year and that are equipped with the technology required to treat these disorders.
Each condition has its own characteristics. In the case of a brain tumour, the child’s symptoms will depend on the area of the brain where the tumour is located.
When there are cases of decompensated hydrocephalus or severe intracranial hypertension, in other words, when there is increased pressure inside the skull, the child may have headaches, visual disturbances and may go into a coma.
Craniofacial malformations are characterised by severe deformities of the bones in the skull and face.
They tend to be rare. It is unusual to treat more than ten cases of each pathology per year.
Diagnosis of neurosurgical pathologies includes:
Assessing the results also involves psychologists or other professionals to objectively observe changes in cognitive function and quality of life.
Treatment of pathologies covered by complex paediatric neurosurgery is usually surgical. This means having an operating room equipped with advanced technology that allows intraoperative monitoring, and specialised anaesthetists and nursing staff.
Unfortunately there are no known preventative measure for these disorders. Our principal task is to restore lost function and achieve the best results so that, where possible, the child can develop normally and integrate as much as possible into family life, school and socially.
The term “univentricular heart” encompasses a wide range of cardiac alterations characterized by the fact that just one ventricle supports systemic and pulmonary circulation.
Clinical symptoms and subsequent treatment are determined by the amount of flow that reaches the lungs. Depending on this, defects can be separated into two groups.
Echocardiogram is the most important tool to define the anatomy of the heart and the large vessels in patients with single ventricle.
Total caval-pulmonary deviation, or Fontan circulation, is achieved through a series of procedures in several stages:
Evolution following this treatment is very good. The survival rate is around 90% after 10 years and 85% after 15 years.
In some cases, a heart transplant may be required in the long term due to improper functioning.
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.
Retinoblastoma is a malignant intraocular tumour that occurs in babies aged 12-24 months. In 95% of cases the baby survives, but early detection is important to combat the disease. It is essential to detect the disease in time to save the child’s life and to preserve the eyeball whenever possible.
This is tumour that occurs as a result of a mutation of chromosome 13 and which originates in the retina, the light-sensitive layer of tissue that allows the eye to see.
In 60% of cases the mutation that causes retinoblastoma only affects the eye (somatic retinoblastoma) but in some children the mutation may affect all the cells in the body. This is known as “germinal retinoblastoma”. 90% of children with this disorder have no family history of the disease. In Spain, the survival rate is over 95%, but it is important to detect it as soon as possible.
There are two types of retinoblastoma:
The main symptoms of the disease are:
The disease affects 15,000 to 25,000 infants.
To detect the disease, a thorough examination of the eye using an ophthalmoscope after dilating the pupils is carried out. Apart from this, an ocular ultrasound or a brain scan can be carried out, as well as genetic testing of the patient and sometimes their family.
Retinoblastoma requires personalized treatment determined by the characteristics of the tumour and the age of the patient. Methods used to combat it include:
Treatment will vary according to the characteristics of the tumour (size, location, laterality, and extraocular extension).
A white reflection in a child’s pupil is symptomatic of the disease and must therefore be urgently treated.
Truncus arteriosus is a congenital heart defect. At birth, the heart has only one blood vessel and one valve, instead of the usual two arteries and two valves. It is always associated with a ventricular septal defect, which is a hole in the partition that separates the two ventricles.
The single output vessel from the heart means that oxygenated blood is mixed with unoxygenated blood and then enters the lungs and the rest of the body. The arteries that supply the whole body and the lungs originate from this single vessel. The subsequent increased volume of blood that enters the lungs may result in congestive heart failure and lung damage.
The most common symptoms of truncus arteriosus are:
It is a rare heart disorder that affects fewer than 1 in 10,000 children and both genders are affected equally. It may be related to chromosome abnormalities such as DiGeorge syndrome, also known as 22q11 deletion.
Truncus arteriosus is diagnosed via echocardiogram, either prenatally or during the first few hours of life. This is usually sufficient to mean that further diagnosis and tests are not required.
It is repaired during prenatal surgery, during which the two circulations are separated and a conduit inserted into the pulmonary artery. The ventricular septal defect will also be closed.
Most children who undergo surgery recover and go on to develop normally.
In some cases further procedures may be necessary once the child reaches adulthood.
Complete transposition of the great arteries (TGA) is a congenital heart defect in which the aorta fully, or almost fully, exits the right ventricle (RV) and the pulmonary artery fully, or almost fully, exists the left ventricle (LV).
The key sign is cyanosis, which is when there is a blueish cast to the skin. Cyanosis is more intense in cases of complete transposition of the great arteries where there is no ventricular septal defect (VSD).
It tends to be diagnosed before birth through foetal ultrasound. Around 70% of cases are diagnosed in the first few months of foetal development.
Complete transposition of the great arteries can be associated with other anomalies such as ventricular septal defect, pulmonary stenosis or aortic arch hypoplasia. In these cases it is known as “complex complete transposition of the great arteries”.
The severity of any related defects must be investigated to determine the best type of surgery in each case.
An arterial switch, anatomical correction or the Jatene procedure is the most commonly used technique to treat complete transposition of the great arteries at the neonatal stage. Through this technique, the pulmonary artery is connected to the right ventricle and the aorta to the left ventricle. The coronary arteries are also transferred to the new aorta.
Most patients reach adulthood without needing further procedures and with a quality of life comparable to the normal population.
A congenital cyanotic heart defect is a congenital heart disorder in which deoxygenated blood bypasses the lungs and enters the circulatory system, or where there is a mixture of oxygenated and deoxygenated blood entering the system. It is caused by structural defects in the heart such as bidirectional shunting, or the incorrect position of the pulmonary artery or the aorta, or any condition that increases pulmonary vascular resistance. The result is the development of collateral circulation.
Children with this heart condition will have the following symptoms:
Tetralogy of Fallot makes up 10% of all congenital heart disorders and is considered the most common cyanotic heart disease. There are around 400 cases for every million births.
Diagnosis is confirmed via 2D echocardiogram.
Repair is carried out around six months old. If the baby suffers a episode before the defect has been corrected, treatment is started in the form of beta blockers to reduce lung spasms.
If very severe cyanotic episodes persist in babies under six months despite this treatment, then palliative surgery needs to be performed to take blood to the lungs. This surgery consists of making a connection between a systemic artery and the pulmonary arteries (a systemic-pulmonary fistula).
The definitive corrective surgery involves closing the ventricular septal defect with a patch and widening the outlet from the right ventricle.
In cases of severe pulmonary insufficiency there is progressive dilatation of the right ventricle in the long term. If this becomes excessive, it is necessary to replace the valve. Risk of lung valve replacement is around 20% after 25 years.
Unfortunately, there are currently no measures that can be taken to prevent this heart condition.
These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.
They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are: Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.
Malformations caused by inherited bone marrow failure syndromes affect the skin, bones, heart and digestive system as well as the urinary system, the central nervous system, and others. They may also affect the area around the bone marrow.
Besides this, they also increase the predisposition to cancers such as acute myeloid leukaemia, myelodysplastic syndrome and squamous carcinoma of the head, neck and reproductive organs.
These syndromes have important biological pathways in common related to cell growth and division such as the activation of the p53 gene that is responsible for halting the cell cycle, cell ageing and cell death. In addition, mutations have been identified in more than 80 genes.
Although this is treated in childhood, once the patient reaches adulthood monitoring is very important. Early diagnosis of these syndromes is essential to ensure the patient receives appropriate treatment. The aim is to minimise toxicity at the same time as allowing genetic counselling, and implementing strategies for cancer prevention and monitoring. This treatment should focus on treating the bone marrow failure, but also any constitutional malformations and extra-haematological manifestations, in addition to cancer treatment.
A multidisciplinary team of specialists with extensive experience of these diseases is necessary to ensure optimum patient care.
The first symptoms are related to a lack of blood cell production:
There are also signs related to malformations such as:
Estimated incidence rates of the different syndromes are:
The usual tests to detect inherited bone marrow failure are:
The following methods are used to treat these pathologies:
To prevent these diseases it is important to avoid smoking, alcohol, sun exposure, and to have a balanced diet. In addition, a cancer prevention programme should be followed with regular visits to the Cancer Prevention Unit and the Ear, Nose and Throat, Maxillofacial and Gynaecology departments.
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