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.
The most effective way of avoiding the illness is vaccination. The diphtheria vaccination is highly effective and is administered as part of the Systematic Immunisation Programme in Catalonia (Programa de vacunacions sistemàtiques).
Diphtheria is transmitted via the respiratory tract, mainly, and also by direct contact with a sick person or a healthy carrier of the bacteria. The illness may affect the tonsils, pharynx, the larynx, the nasal mucous membrane and, much less frequently, the skin or other mucous membranes. The bacteria forms a thick grey membrane with a dark red swollen area around it, which in the case of the nose and throat may obstruct the respiratory tract.
Some people may carry the bacteria in their nose or throat. If these people are vaccinated they will not develop the illness, but they may transmit the bacterium to other people via droplets produced when they sneeze or cough. The existence of carriers in countries with no cases of the illness is very rare.
A stroke is a clinical syndrome characterised by rapid development of signs of neurological involvement lasting more than 24 hours. Vascular in origin, a stroke is considered a medical emergency that requires immediate diagnosis and treatment.
The person who has suffered a stroke usually needs further rehabilitation but, in general, it is important to respect their initiative and autonomy, even if it takes them longer, and to avoid overprotection.
Recommendations and treatment for relatives and carers
Peer education consists of knowledge exchanges between people in the same group about the disease and the skills needed to maintain and improve health. As this is achieved by individuals, groups and communities, it empowers patients against the disease, involving them as active elements, and generating a group feeling. This facilitates common strategies in the process of raising awareness, removing stigmas and raising the profile of Chagas disease.
Chagas disease is an infectious, usually chronic, tropical disease caused by the parasite Trypanosoma cruzi. People can become infected through the faeces of an infected insect, a triatomine, also known as conenose bugs, kissing bugs, assassin bugs or vampire bugs, depending on the country.
It can also be transmitted in other ways:
Transmission caused by the insect only takes places in Central and South America, but the other ways, due to the migratory movements of infected people, may occur in other corners of the planet. The illness can be prevented.
Although Chagas disease affects between eight and ten million people around the world, today it is not very well known. According to the World Health Organization, it is one of 17 forgotten and neglected diseases.
In somewhere like Spain this illness has different health education needs than in countries where it is endemic. Familiarity, awareness, removing stigmas and visibility of the illness are therefore essential instruments in health education about Chagas disease.
It is calculated that currently less than 10% of infected people know that they have the disease.
Who can be infected?
How do you know if you are infected?
What do you need to do?
Chagas disease is characterised, first of all, by an acute phase during which treatment is effective and it can be cured. In most cases, however, it evolves to become a chronic disease and, as such, requires control and monitoring for life.
More than half of infected people show no symptoms, but three out of ten will suffer heart problems and one in every ten digestive problems (years after having contracted the infection). In these cases, the process is initially asymptomatic, so that without sufficient treatment or monitoring the illness could manifest itself suddenly and cause irreversible damage or even sudden death.
What effects does the disease have?
What are the warning signs?
Chagas disease is often accompanied by emotions and feelings of guilt, impotence and fear. Questions such as: “Why me?”, “What do I do now?” and “Does Chagas mean I’m going to die?” are common in people who have been diagnosed.
What do you need to know?
There are no drugs (vaccinations or medicine) to prevent Chagas disease. People without the disease are at risk of becoming infected and people who are already affected are at risk of being re-infected.
The preventive measure we have is education.
Chagas disease has psychological, social and cultural characteristics and determinants for the people affected, their families and society. In fact, a diagnosis of Chagas disease can have significant repercussions from a psychological and social point of view.
Often, the people affected do not want to know if they are affected or not for fear of the disease and its imagined consequences: often these are based on popular beliefs and/or previous experience with relatives, friends or acquaintances who have died in an unfavourable social environment. Sometimes, they hide the disease for fear of being excluded at work.
The treatment for Coeliac disease is to follow a strict gluten-free diet for life. A gluten-free diet should be based on a varied and balanced diet combining foods that do not contain gluten, including gluten-free cereals. Cross contamination at home should also be taken into account (making sure foods suitable for Coeliacs have not come into contact with other foods, utensils or surfaces that contain gluten) and precautions taken when eating out. It is also important to always check the ingredients list on food labels. This sheet contains basic tips on having a gluten-free diet in a safe and balanced way.
Gluten is a protein complex found in cereals. It is made up of two proteins, gliadin and glutenin. It is important that Coeliac patients permanently remove foods containing gliadin and glutenin from their diet. This means eliminating wheat, barley, rye, oats, triticale (a hybrid of wheat and rye) and all derivatives.
Although foods must be removed from their diet, patients with Coeliac disease must follow a balanced diet, ensuring they get sufficient nutrients. To achieve this you need to incorporate a wide variety of foods with different preparation and cooking methods.
Patients with Coeliac disease should base their diet on dairy, meat, fish, eggs, fruit, vegetables and pulses, and cereals they can eat, such as corn, rice, quinoa, millet, amaranth, sorghum, teff or buckwheat. Sugar and processed foods should be ingested to a lesser extent.
Foods should be prepared as normal, avoiding cross contamination: boiled, steamed, grilled, fried or baked. Batter and breadcrumbs should be made with flour or bread that is suitable for Coeliacs.
It is important to take care with processed or packaged foods. It is harder to avoid cross contamination in processed foods.
Read product labels carefully when you are buying food that is not fresh. Some foods naturally do not contain gluten, but in their commercially available form they do, as gluten is sometimes added during the manufacturing process. To be on the safe side, it is therefore better to avoid unlabelled products, such as those bought in bulk or handmade products.
It is a good idea to have a space set aside just for storing gluten-free foods. You should also use clean cooking utensils to make sure they have not come into contact with products containing gluten.
When eating out, take precautions. It is important to make sure that what you eat has not come into contact with any food containing gluten. One example would be oils in which foods containing gluten have been fried.
Patients with Asperger’s syndrome need a stable and predictable environment that can be easily adapted. It is key to their well-being to establish routines according to their interests, organise their time, avoid inactivity or over intense activity as well as sudden changes. Although the syndrome has no cure, appropriate treatment and involving family members can improve the quality of life of patients.
People with Asperger’s syndrome may have different requirements depending on their age, surroundings and the awareness that they have of their difficulties. For this reason, they need a tailor-made programme that responds to their specific case.
The aim of these customised programmes is to:
It is important to manage their development through different disciplines. These may include cognitive treatments, social skills programmes and occupational therapy for the patient. You also have to consider guidelines on how to resolve conflicts and how to manage pyschoeducational groups for families or caregivers.
In infants, from an emotional and attitudinal point of view, it is important to learn to identify the warning signs in their mood. In this way, we can prevent difficulties in anger management and low tolerance to frustration, since they are patients with a high degree of sensitivity to criticism. Avoid punishment as much as possible and establish more positive reinforcement strategies.
All these guidelines must be established in a space where the differences the child or adolescent presents are valued positively, including their limitations, but also their possibilities and positive aspects.
In adults, many of these characteristics continue, as Asperger’s cannot be cured. In any case, personalised treatment, involving family members and good communication with professionals can allow a better quality of life.
Hereditary angioedema is a rare genetic disease that affects approximately one in 50,000 people. It is usually an inherited disorder and is characterised by the accumulation of fluids outside the blood vessels, causing swelling of the face, hands, feet, extremities, genitals, gastrointestinal tract or the upper respiratory tract. Because it is a low-prevalence disease with symptoms similar to those of other diseases and is therefore difficult to diagnose, it is important for there to be reference centres so that suspected and diagnosed cases can be centralised.
The inflammation that hereditary angioedema causes does not present associated itching and may last for 1 to 5 days. These symptoms are developed as a result of the malfunction of certain proteins that help maintain the normal flow of fluids through the blood vessels (arteries, veins and capillaries).
The seriousness of the disease shows a significant degree of variance. Angioedema episodes may be extremely incapacitating and have a serious effect on the patent’s quality of life. When it occurs in the region of the mouth or neck, the sufferer may die of asphyxia if they are not given preventive treatment.
In most cases symptoms start to manifest in childhood and/or puberty and continue throughout adult life.
There are different types of hereditary angioedema and they are classified according to whether or not they present a deficiency of the C1 component of the complement (C1-INH).
Swelling of the subcutaneous tissue in any part of the body, although it is most commonly found in:
Depending on the affected area, the symptoms may range from local discomfort to invalidity of the affected extremity, discomfort or pain when swallowing, voice changes, loss of voice, or dyspnoea (shortness of breath).
At one time of their life up to 50% of patients may present an episode that affects the throat, which if not immediately treated could lead to asphyxia.
Hereditary angioedema affects people who exhibit a mutation in certain genes, such as SERPING1, F12, PLG, KNG1 and ANGPT1. As it is a dominant autosomal disease, an affected patient has a 50% chance of passing it on to their children. Given that it is a genetic disorder, it is common to find that more than one member of the family is affected.
Depending on the type of mutation, it may affect men and women equally (types I and II) or women more frequently (HAE-nC1-INH). Cases of hereditary angioedema without C1-INH deficiency are usually associated with hyperoestrogenic states, such as pregnancy or the consumption of contraceptives that contain oestrogens.
The Allergology Clinic first assesses patients who present with recurring angioedema episodes and cases in which there are family members who also suffer them. Subsequently, a blood analysis is requested to determine the levels of the components of the complement, including the inhibitor of component C1 (C1-INH) and, finally, the diagnosis is completed with a genetic study.
Treatment depends on the number of attacks, the severity of the symptoms and the degree to which quality of life is affected. Treatment is always on a case-by-case basis and may be acute, which means the subcutaneous of intravenous administration of medication at the time of the angioedema attack, or preventive, to stop attacks occurring so frequently. The latter treatment is usually recommended for the patients who suffer the most episodes.
Angioedema treatments can be self-administered by the patients.
In the case of surgery, endoscopies, tooth extractions or certain dental procedures, treatment must be given in advance to prevent an attack.
Blood analysis normally forms part of the diagnostic procedure. Depending on the treatment, during monitoring it may be necessary to perform an abdominal ultrasound and draw blood for analysis.
Factors known to possibly trigger attacks should be avoided as far as possible:
Sarcomas are an uncommon type of cancer that account for only 1-2% of all tumours in adults. They also represent a complex entity, given that there are more than 70 types, with differences in terms of their diagnosis, prognosis and treatment. Accordingly, sarcoma patients need to be assessed by multidisciplinary committees with vast experience in this disease.
Sarcomas are a set of rare tumours whose origin lies in the soft tissues of the body or the bones.
Soft tissues include muscles, nerves, vessels and fat. These tissues may also form part of organs.
The infrequency of sarcomas makes it necessary to handle clinical cases and their treatment on an individual basis, which generally involves a decision-making process that is shared by several professionals with expertise in this disease and the patients themselves.
The correct diagnosis of a sarcoma and its specific type is the first critical step to be taken, as it will form the basis of the clinical handling of the patient, as well as the precise information about the nature of their disease.
In contrast to many cancers, sarcomas do not usually generate symptoms in their early stages of growth. This is because they develop in areas of the body in which they can progressively grow by pushing against structures and organs.
The first symptom may be a painless lump. The majority of lumps are benign, but if it grows quickly, hurts, is deep and/or measures more than 5 centimetres, it is more likely to be a sarcoma. Sometimes the symptoms may appear as a result of excessive compression of the body’s various tissues and organs.
There is no clear factor that triggers a sarcoma. Certain inherited genetic syndromes may predispose a person to being more likely to develop a type of sarcoma, such as Li–Fraumeni syndrome, neurofibromatosis or familial adenomatous polyposis.
One of the most important steps is to confirm the clinical suspicion of sarcoma and identify its specific type. This requires a biopsy to obtain a fragment of the tumour so it can be studied by Pathological Anatomy.
It is sometimes diagnosed with molecular techniques in association with radiological tests like x-rays, computed tomography (CT), magnetic resonance imaging (MRI) or PET-CT.
The treatment of all sarcoma patients is always agreed by multidisciplinary committees composed of professionals with expertise in sarcomas from a variety of the services of our centre: Medical Oncology, Radiation Oncology, Traumatology, General Surgery, Radiology and Pathological Anatomy.
Given that sarcomas may arise in any part of the body, occasionally other specialists may also participate.
The treatment of sarcoma patients may include:
The most suitable procedure depends on a number of different factors in addition to the specific type of sarcoma. Targeted therapy and immunotherapy play a very important role in certain types of sarcoma. Finally, there are also clinical trials that experiment with new therapies.
The commonest are radiological tests like those described above (x-ray, CT, MRI and PET-CT).
As there is no specific cause of sarcomas, in the majority of cases there are no specific measures that can be taken beyond the usual healthy living habits recommended by the World Health Organization.
Patients with inherited genetic syndromes, however, are advised to undergo monitoring in specialist units.
The coronavirus SARS-CoV-2 is a virus known as acute respiratory syndrome coronavirus 2 that was first observed in Wuhan (Hubei, China) in December 2019. This new virus is the cause of an infectious disease, known as COVID- 19, which causes respiratory infections to people. In most cases, eight out of ten, the symptoms are mild.
It is important to contact 061 in case of fever, cough, shortness of breath and if you have traveled or have been in contact with a person from the highest risk areas. The World Health Organization (WHO) has declared the SARS-CoV-2 coronavirus as an international public health crisis.
Coronavirus is a family of viruses that circulates among animals. Some types of coronaviruses can also affect people, causing respiratory infections, such as the coronavirus SARS-CoV-2.
In 80% of cases, the symptoms are mild and can be confused with those of a flu:
These symptoms may appear gradually accompanied by nasal congestion or sore throat. Moderate cases may be accompanied by a feeling of shortness of breath and, in the most severe, the infection causes more severe complications, such as pneumonia.
According to current data, there are people who have become infected but have not developed any symptoms or are ill. Although in most cases the symptoms are mild, some people, with a more severe prognosis, have died.
The SARS-CoV-2 coronavirus can infect anyone, regardless of their age. Even so, two groups with greater risk have been detected:
The risk of infection is higher in those areas where there are cases of SARS-CoV-2 coronavirus diagnosed. Therefore, everyone needs to take protective measures, such as maintaining good hand hygiene or covering their mouths with their elbows or with a tissue when coughing.
Studies conducted so far suggest that the SARS-CoV-2 coronavirus is transmitted by air, from person to person, through droplets from the nose or mouth that are spread when an infected person coughs or exhales. Contagion occurs when these droplets are exhaled by a healthy person or when they fall on an object or surface that the person subsequently touches and then, without disinfecting the hands, touches the eyes, nose or mouth.
Between infection with the virus and the appearance of the first symptoms of the ailment, it is estimated that there may be an incubation period of between one and fourteen days. On average it is estimated that this is five days.
The diagnosis is made through a specific COVID-19 detection test.
Currently, there is no specific treatment for SARS-CoV-2 coronavirus, only supportive treatment. In milder cases, the treatment is similar to the flu: pain relievers to control fever and stay properly hydrated.
In the most severe cases, if the patient requires ventilatory support, due to pneumonia or respiratory failure, the patient is admitted to the ICU.
In addition, clinical trials are being conducted to find a specific vaccine or drug treatment to predict or treat COVID-19.
Atopic dermatitis, also known as atopic eczema, is the most frequent chronic inflammatory cutaneous disease in children. It manifests with outbreaks of reddened skin with peeling –eczema– which are more or less extensive, with intense itchiness, causing the need to scratch. This causes wounds on the eczema which often become superinfected. It is a disease which affects the quality of life of patients and those around them.
Atopic dermatitis is a chronic inflammatory cutaneous disease. It is known for manifesting in outbreaks, being reversible and for unpredictable progression during the patient’s life. The most frequent cutaneous disease in children. Patients have very itchy, dry skin, as well as a hyperactive immune response to environmental factors. Intense itchiness leads to uncontrolled scratching, which causes wounds on the eczema. These can be complicated by infection and can cause great anxiety in patients and their families.
Atopic dermatitis is a multifaceted disease caused by a combination of many factors, including:
Common symptoms of atopic dermatitis are:
Clinical presentation, characteristics of symptoms and initial signs depend on the patient’s age but, in all cases, axillary and inguinal folds are usually unaffected.
The most frequent cutaneous disease in children. Usually begins during childhood and most cases are resolved during adolescence. Although some paediatric patients are affected by the disease until adulthood. Atopic dermatitis can also sometimes begin in adults, young adults or even at an advanced age.
Atopic dermatitis is always diagnosed according to clinical criteria and generally does not require complementary tests. Currently, diagnosis and assessment of the severity of the disease are clinical with the doctor examining the patient.
A skin biopsy should be considered to exclude other conditions, including early stage T-cell cutaneous lymphoma, psoriasis or dermatitis herpetiformis.
Atopic dermatitis is not an allergic condition but children with the disease may suffer:
If rhinitis, allergic conjunctivitis or any food allergy is associated or suspected, the patent will be referred to the Allergology Department.
The main goal of treatment is to maintain the skin free from eczema outbreaks. Therefore, hygiene measures will be prescribed to keep the skin moisturised and less susceptible to inflammation. External factors that can trigger skin inflammation should also be avoided.
Topical corticosteroids, topical immunomodulators and oral antihistamines are used to control minor to moderate outbreaks of atopic dermatitis in order to reduce inflammation and itchiness. Topical or oral antibiotics may be necessary in case of eczema superinfection.
Controlling severe outbreaks may require systemic treatment, such as:
Prevention is essential to avoid the inflammatory response associated with eczema:
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 polyposic 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-polyposic 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.
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