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.
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Chronic pelvic pain is a persistent condition lasting more than six months that affects the pelvic area and related structures in both men and women. It has a multifactorial origin and can significantly impact quality of life, sexual health, and emotional well-being.
Chronic pelvic pain is defined as "chronic or persistent pain in the structures related to the pelvis in both men and women". It commonly impacts on cognitive, sexual and emotional behaviour. It often manifests as gynaecological, sexual, intestinal or pelvic floor dysfunction. A multidisciplinary approach must therefore be taken to treatment.
Chronic pelvic pain lasts for six months or more and affects the pelvic area, the abdominal wall of the bellybutton and below, the lumbosacral area of the back and/or buttocks and is of sufficient intensity to cause disability in the patient and/or require medical attention.
This has a clear effect on the quality of life of people suffering from the condition.
Its origin is unknown, but we do know that it is exploited by multiple biological/organic, psychological and environmental conditions, which interact in a non-linear way and predispose the patient to present with the condition. There is a clear trend for patients to attend multiple specialists, with requests for complementary testing, which can become iatrogenic, with the patient often feeling misunderstood and ill-treated by the healthcare system.
As it is more of a clinical condition rather than a diagnosis as such, the symptoms can vary a lot, but they always centre around persistent pain. It has a major impact on women of reproductive age and its impact on quality of life varies depending on the causes. It is worth remembering that it gravely impacts on patients’ sex lives and this can cause very significant psychological issues.
According to research, the prevalence of pelvic pain in epidemiology is vary variable. This almost certainly has to do with sociocultural aspects. According to the latest studies, it could be as much as 6.4-25.4% in women and lower in men, at around 2-17%. It is very likely that in the case of men there is an underestimation of this prevalence as there is less willingness to look at problems that also affect the sexual sphere.
Diagnosis is clinical. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are different scales to assess the severity of symptoms or associated comorbid disorders, and neuropsychological tests that evaluate cognitive difficulties in terms of attention and concentration. There are also some useful complementary tests to rule out organic causes and make a good diagnosis.
A multi-modal approach is required: psychoeducation, psychological treatment and pharmacological treatment. If the condition is also affecting the patient’s sexuality, we must consider tackling the issue with the patient’s partner as a priority. Several drugs have been shown to help control the symptoms. It very important for treatment to create a good doctor/patient relationship, avoiding unnecessary and iatrogenic complementary testing.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height. Neuroimaging. Scans.
Work with healthcare professionals from the different specialisms that treat chronic pelvic pain. Schedule regular appointments and manage requests for complementary tests and medical interventions to prevent iatrogenic illness. Do regular physical exercise, try to rest well at night, stay active and take part in employment and/or leisure activities, practise relaxation therapies such as mindfulness and avoid consuming toxic substances. Rehabilitation physiotherapy.
Cystic fibrosis is a genetic disorder that affects the lungs, the digestive system and other organs in the body. 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.
Hiatal hernia occurs when the upper part of the stomach moves into the chest through the diaphragm, allowing stomach acid to irritate the esophagus. It can cause heartburn, abdominal discomfort, difficulty swallowing, or dry cough. Diagnosis is made via imaging and endoscopy, and treatment can be medical or surgical depending on severity.
A hiatal hernia is when the upper part of the stomach moves from the abdomen to the thorax above the diaphragm muscle.
This means that the acidic content of the stomach can easily go up into the oesophagus, leading to a chemical irritation known as oesophagitis.
This condition affects approximately 20% of the population, although knowing exactly how many people suffer from it is difficult because some of them do not present any symptoms at all. Those that experience symptoms usually suffer from acidity, abdominal discomfort, difficulty swallowing, bad breath or a dry cough.
We do not really know why hiatal hernias occur.
The diaphragm is the muscle that separates the thorax from the abdomen. The diaphragm's hiatus is one of the anatomic structures that help to keep the oesophagus (intrathoracic) and the stomach (intraabdominal) in position. If the stomach is displaced towards the thorax, its gastric content, which is very acidic, can easily go back up the oesophagus. The existence of a hiatal hernia is one of the causes of acid reflux, but not the only cause.
When suffering from a hiatal hernia, a patient may have acid reflux, with the consequence being a chemical irritation from the stomach acid on the lining of the oesophagus. This leads to a form of inflammation, known as oesophagitis, which is very painful.
Such pain is located close to the heart, which is why it needs to be distinguished from the pain caused by angina or pericarditis.
There may also be no symptoms of a hiatal hernia.
Hiatal hernias are very common and can affect 20% of the population at some point in their lives. It can also be an incidental x-ray finding in >40% of the asymptomatic population. Incidence increases with age and is most common in the over-50s.
Diagnosis of a hiatal hernia is based on demonstrating the abnormal position of the stomach and almost always the presence of acid reflux.
Oesophagogram:
The oesophagus and the stomach can be X-rayed, as can the swallowing process and reflux. A substance must be taken that shows up as opaque on X-ray images in order to be able to see the aforementioned structures.
Digestive endoscopy:
A flexible tube is inserted into the mouth, containing a camera for imaging the oesophagus and the stomach. This enables the position of the oesophagus and the stomach to be observed and the degree of inflammation detected.
Oesophageal manometry:
During this test, a probe is inserted through the nose that allows pressure changes in the oesophagus to be observed during swallowing and detects abnormalities in the way it is functioning.
24-hour pH (acid) monitoring
Acid monitoring with a probe that is inserted through the nose and assesses the amount of acid reflux from the stomach to the oesophagus over a 24-hour period.
Hiatal hernias are treated if there is severe acid reflux or excessive compression (strangulation) in the part of the stomach that is displaced.
Medical treatment of the hiatal hernia is done using hygienic-dietetic measures, such as lifting the head of the bed, not eating copious amounts of food, light dinners and medications that counteract or decrease stomach acidity.
If the patient does not respond to medical treatment, surgical correction of the hiatal hernia can be performed to reposition the stomach intraabdominally.
Surgery can be performed by laparoscopy.
Kidney diseases affect the ability of the kidneys to filter blood, regulate minerals and blood pressure, and produce red blood cells. Early detection, medical monitoring, and appropriate treatments can slow progression and prevent serious complications.
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.
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.
The treatment of kidney failure has four fundamental pillars: controlling high blood pressure when present, managing elevated urea levels, addressing mineral salt imbalances (sodium, potassium, calcium, phosphorus, magnesium), and controlling acidosis and anemia.
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 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
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.
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