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.
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors.
Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer.
It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants.
In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer. The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposis colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer. Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposis colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome),MEN1 gene,NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25–30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
Cystic fibrosis is a genetic disorder that affects the lungs, the digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive enzymes. Bodily secretions that are usually fluid and not viscous become more viscous. Instead of acting as a lubricant, the viscous secretions form layers, especially in the lung and pancreas.
Patients with cystic fibrosis have a much higher level of salt in their sweat than normal.
The age at which symptoms appear varies, depending on the intensity of the disease in each person. Currently screening for cystic fibrosis is conducted in the first few days of a baby’s life, allowing a diagnosis to be made within a month of birth, much earlier than symptoms are likely to develop. Normally, symptoms appear within the first few months or years of life, although in some patients they may appear during adolescence or in adulthood. There has been an improvement in the quality of life of patients with cystic fibrosis compared to previous decades. Although cystic fibrosis requires daily treatment measures to control it, patients can still go to school and work.
The most common symptoms in small children are fatty deposits, delay in gaining weight, and repeated bronchitis and respiratory infections. Older children and adults may suffer from sinusitis, diabetes, pancreatitis or fertility problems.
It affects children and adults more or less severely depending on whether the illness has a mild or severe form of manifestation.
All new-borns are screened using a blood test to detect immunoreactive trypsinogen.
The sweat test (amount of salt in the sweat) is an important diagnostic test. It is done by stimulating the skin to increase sweat and measuring the amount of chloride secreted. In cystic fibrosis there is an increased amount of chloride and sodium.
Diagnosis is confirmed using genetic testing to look for mutations of the CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator). This gene is involved in the passage of salt through the membranes of the body.
It is very important that patients be attended in a specialised multidisciplinary Unit.
There is currently no definitive cure, although there is a lot of research in this field and in the future it is probable that we will be able to change the natural course of this illness with new drugs that come onto the market.
Treatment is aimed at maintaining lung function, avoiding respiratory infections and improving the absorption of foods and nutrition. Breathing exercises are essential. These breathing exercises maintain adequate ventilation of the lungs and in some cases are accompanied by inhalation of a solution of sodium chloride, other fluidifying substances or antibiotics.
The relevant preventive vaccinations should be administered (flu, pneumococcal, etc.). The Cystic Fibrosis Unit designs a treatment plan for each patient, which varies over time and according to the evolution of the condition.
From a digestive point of view, pancreatic function can be helped by taking pancreatic enzymes orally and promoting the absorption of foods.
In some cases, if the disease is very advanced, a lung transplant may be needed. Treatments are improving all the time and need to be administered less and less frequently.
Screening for immunoreactive trypsinogen in the blood, the sweat test, genetic analysis.
Complementary tests that may be useful include blood tests to look at vitamin levels, among other things, chest x-ray, chest CAT scan, functional respiratory tests (spirometry) and stool analysis.
Early detection is currently a reality and allows early treatment as symptoms develop.
The thyroid gland, which is located in the anterior part of the neck and is shaped like a butterfly, produces thyroid hormones, which regulate the metabolism of the entire human body. They therefore influence, for example, our temperature and heart rate. The main causes of hyperthyroidism are: Graves’ disease (when an antibody against the body’s own thyroids is produced), a toxic multinodular goiter (makes too much thyroid hormone), and thyroiditis (inflammation of the thyroid of unknown origin).
The most common symptoms are altered heart rate, feverish temperature, nervousness and sweating, dry skin and unexplained weight loss.
It can affect people of all ages, but particularly women from adolescence to menopause.
Hyperthyroidism is detected by finding thyroid hormones in the blood, as well as the pituitary hormones tasked with regulation of thyroid hormones.
Treatment is aimed at reducing the action of excess thyroid hormones. Drugs are used that antagonise the hormones, usually orally. Drugs are also prescribed to slow heart rate. In some cases, radioactive iodine is administered to partially deactivate the hormone-producing thyroid cells in a controlled manner.
The most common test is a blood test. Other additional tests include thyroid scintigraphy and thyroid ultrasound.
In order for the thyroid gland to function normally, moderate consumption of iodised salt is recommended, as iodine is an essential component of thyroid hormones.
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 involving expert professionals from different medical specialties, personalized nursing management, psychological support, and social work, among other services.
At Vall d’Hebron, more than 200 specialist professionals care for over 40,000 patients with rare diseases. We are one of the hospitals in Spain that treats the highest number of rare conditions and one of the leading centers in Europe in this field. As of 2025, we are part of 20 European Reference Networks for rare diseases (ERN), 43 Spanish reference centers (CSUR), and the 12 expertise networks of the Department of Health (XUEC). This makes the hospital a highly specialized center for caring for these diseases throughout the entire life journey—from birth to adulthood—through a networked system that allows sharing resources and expertise with other hospitals and centers in the region.
The professionals across the various units and centers aim to improve patient access to diagnosis, information, and personalized care, as well as support research through:
The Rare Diseases Committee aims to establish a common framework for rare disease care at the hospital, identify and align the different initiatives (clinical, training, and research), deploy prioritized action lines, and monitor and evaluate outcomes in order to propose and implement improvements.
The concentration of patients with rare diseases increases knowledge and promotes research. Our Research Institute (VHIR) is a leader in both basic and clinical research. More than 14 basic research groups focus on studying rare diseases to improve diagnosis and develop new therapeutic approaches. We are the center in Spain with the highest number of clinical trials involving orphan drugs, including gene therapies, and we have a leading unit dedicated to the development of advanced therapies.
For more information, you can contact the rare disease team at: minoritaries@vallhebron.cat
Hypoglycaemia usually occurs in people with diabetes, when the level of glucose in the blood falls dangerously low. Hypoglycaemia is when the capillary glycaemia (measured in a drop of blood from the finger) falls below 70 mg/dl. It can occur in the case of an excessive dose of antidiabetic treatment (pills or insulin), due to a decrease or delay in intake of food, an increase in normal exercise or alcohol abuse.
The symptoms of hypoglycaemia are sweating, trembling, chills, hungry sensation, headaches, blurred vision, irritability, dizziness and, in very serious cases, loss of consciousness.
For people who may experience hypoglycaemia, we recommend:
Diabetes is an illness that manifests itself as an increase in blood glucose, which is called hyperglycaemia. There are two types, type 1 and 2.
The goal of treatment of the disease is to reduce it, and maintain normal glucose values in the blood, glycaemia.
To achieve this, there are two types of medication: non-insulin hypoglycaemics and insulin. The non-insulin treatment is used to reduce glycaemia and is only used to treat type 2 diabetes mellitus, when diet and physical exercise are not enough to regulate the level of sugar in the blood.
Type 1 diabetes must be treated with insulin, a hormone that is essential for life that is normally created by our bodies, and which needs to be replaced when a patient is unable to generate it. Insulin cannot be administered orally meaning it needs to be administered subcutaneously, usually with pre-filled pen injectors.
Although insulin treatment is essential in treating type 1 diabetes, patients with type 2 diabetes mellitus may also need it at some point in their illness.
The Endocrinology and Nutrition Service provides care for patients with endocrine gland diseases, which secrete hormones into the blood flow, as well as metabolism and all aspects relating to nutritional status at all stages of life. Thanks to translational research, carried out on our hospital campus, we can apply basic research to prevention and treatment, thus optimising patient care in terms of prevention, diagnosis and treatment.
In our department we treat diseases such as diabetes, morbid or severe obesity and the alterations derived from benign or malignant pathology of endocrine glands (ex. pituitary, thyroid, parathyroid, adrenal, ovary / testicle). We also diagnose and treat the chronic complications of diabetes, dyslipidaemia and other metabolic disorders. We have the following functional units:
The specialisation of endocrinology and nutrition includes the study and treatment of disorders of the endocrine glands, the metabolism and all aspects related to nutritional condition.
Endocrinology and nutrition training itinerary
This includes basic clinical knowledge of diagnostic techniques, dietary and therapeutic measures and all aspects of preventative medicine related to these fields. Other specialist departments are also involved in the Endocrinology and Nutrition Teaching Unit, such as Internal Medicine, Cardiology, Nephrology, Neurology, Paediatrics, Nuclear Medicine, and the Nutritional Support Unit and the Accident and Emergency Department.
Diabetes is a chronic disease brought about by the body’s inability to process sugar effectively. It occurs when the pancreas cannot produce insulin, or when the body cannot put it to use. This means there are high levels of glucose in the blood, which can damage organs, tissues and limbs if it remains high for a long time.
There are two types of diabetes: 1 and 2. Type 1 can only be treated with insulin, whereas type 2 can be prevented through doing sport, taking exercise and diet.
There are different types of diabetes depending on the harm they cause:
There are several symptoms which may or may not appear. The most common are:
In the case of type 1 diabetes, these symptoms may appear suddenly or over time, and may significantly affect general well-being.
Between 1980 and 2014, diabetes in adults rose from 4.7 % to 8.5 %. In addition, it has been found to be on the increase in countries with low and middle incomes.
It can be detected with a blood test analysed in the laboratory to measure glucose levels. Diabetes is confirmed if the level is equal to or higher than 126 mg/dL on two occasions. A normal glucose level would be between 110 and 125 mg/dL.
In the case of type 2 diabetes, it can be in the body for many years without detection. For this reason, it is often diagnosed when a complication arises or as the result of a routine blood test.
There are several types of medication that lower blood glucose levels. Each type of diabetes requires different treatment.
Type 1 diabetes cannot be prevented, but environmental factors leading to the process that destroys insulin producing cells in the pancreas are being studied.
On the other hand, a balanced diet and increased physical exercise can help prevent type 2 diabetes. In other words, obesity should be avoided.
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