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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People with celiac disease must follow a strict gluten-free diet, avoiding cross-contamination and checking food ingredients, to maintain balanced nutrition and prevent complications from accidental gluten intake.
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.
The heart is made up of four cavities, two atria and two ventricles. The atria are separated from each other by an interatrial wall or septum, and the ventricles by an interventricular wall or septum. Between the atrium and the ventricle there is the atrioventricular valve. The veins arrive into the atria and the major arteries leave the ventricles. Between the ventricle and its artery outlet there is the semilunar valve. The heart is divided into the right and left sides.
Non-oxygenated blood arrives at the right atrium via the venae cavae, from the head and arms (upper vena cava) and from the abdomen and legs (lower vena cava). This blood passes to the right ventricle through the tricuspid valve. The right ventricle pumps this blood, through the pulmonary valve, into the lungs through the pulmonary arteries, which is where the blood gets it oxygen.
This oxygenated blood returns to the left atrium via the pulmonary veins. From the left atrium it is directed to the left ventricle through the mitral valve. The left ventricle pumps the blood to the aorta through the aortic valve to distribute it to all the organs and tissues in the body.
The heart is irrigated by the coronary arteries, right and left. These coronary arteries divide into several branches to carry oxygenated blood throughout the heart tissue.
The heart contracts due to an electric stimulus triggered by the conduction system. The cardiac conduction system is made up of a series of cells that have the capacity to create this stimulus and determine heart rate. This stimulus begins in the sinus node, which is found where the superior vena cava enters the right atrium. This stimulus causes the atrium to contract. This stimulus then propagates the ventricle through another structure called the atrioventricular node. This conduction system is capable of increasing the heart rate when necessary, such as for example during exercise, when you have a fever, when you feel emotions, etc., or decreasing the heart rate when you are sleeping. This system is regulated by the action of different hormones or in response to nervous stimuli in the cardiac plexus.
The cardiac cycle has two phases: systole and diastole. In systole, the heart contracts to send blood to the major arteries and during diastole it relaxes to fill with blood to later be ejected.
Testicular cancer is the most commonly-found tumour in men aged between 15 and 35. More than 90% of testicular cancers develop in the germ cells, which are responsible for producing sperm.
Secondary testicular tumours are caused by cancer cells that spread to the testicles from other parts of the body (metastasis). These cancers are much less common than the other forms of testicular cancer mentioned above.
While these tumours originate in the testicles, they may also occasionally appear in the abdomen, chest or other parts of the body, either as a primary tumour or as distant involvement of a primary tumour in the testicle.
Testicular cancer usually presents as a unilateral, non-painful testicular mass or as an incidental finding in an ultrasound examination.
The causes of testicular cancer are not known, but there are factors that can increase the risk of this disease, such as:
There is no known connection between testicular cancer and testicular trauma, muscle tears, hot baths or tight-fitting clothing.
Once treatment is completed, vigilance is of vital importance. The doctor will recommend self-examinations and regular check-ups.
During check-ups, the urologist will examine the unaffected testicle for lumps or abnormalities; perform regular blood tests to quantify tumour markers; and perform imaging tests - such as chest x-rays or regular CT scans - to check for the recurrence of any tumours.
Testicular cancer is a type of cancer that can be effectively treated and potentially cured if it is diagnosed and treated on time. Advanced testicular cancer can also be cured with treatment.
Neither testicular cancer nor the surgical removal of a testicle should impair sexual function or fertility. The surgical removal of a testicle has a minimal impact on a man's fertility, as a single testicle produces large amounts of sperm on its own. For men who require further treatment, fertility may be temporarily affected.
Prostate cancer is the tumor most frequently diagnosed in adult men in developed countries with a long life expectancy. It is an atypical and uncontrolled growth of the cells that make up the prostate gland.
If there is suspicion due to symptoms or an elevated PSA, a digital rectal exam and a new blood PSA test will be performed. If the rectal exam is positive (a nodule or hardening of the prostate is detected), a biopsy will be carried out. If the rectal exam is negative, PSA levels will be evaluated to decide whether a biopsy is necessary. PSA is used as a screening tool in the general population to enable early diagnosis of prostate cancer.
It is a good tumor marker because it increases when the prostate glands are disrupted due to tumor growth. Since it is also present in the normal prostate and increases in benign prostate growth, it must always be interpreted in the individual context of each patient. An elevated PSA is not synonymous with prostate cancer, and a rectal exam and ultrasound should always be performed. The final diagnosis is made only by biopsy.
Risk factors for developing the disease include:
The typical profile is a man aged 50–70 years, in whom benign prostate growth may coexist.
Many men with prostate cancer are asymptomatic.
Often, the first sign of the disease is a casual finding of an elevated prostate-specific antigen (PSA) in a routine blood test. Sometimes the disease can produce local symptoms related to the growth of the prostate gland, which may mimic those caused by benign prostatic hyperplasia. In these patients, bone pain is usually associated with more advanced stages of the disease.
Experiencing urinary discomfort does not necessarily mean you have prostate cancer. Consult your doctor if you have any of these symptoms to ensure you receive an accurate diagnosis and appropriate treatment.
Prostate cancer is diagnosed through serum PSA levels, digital rectal exam, and ultrasound-guided prostate biopsy.
Prostate biopsies can cause some complications, which in most cases resolve without lasting effects. The most common are:
When prostate cancer is localized and low-risk, it can be treated with surgical removal and radiotherapy. In cases of spread, treatment with radiotherapy and hormones is considered to slow tumor growth. Sometimes, if the patient is elderly, the progression of the cancer is closely monitored before surgery, as in some cases it does not pose a short-term threat to survival.
Prostate cancer survival depends on the stage at the time of diagnosis: it is quite favorable in localized cases, less favorable in advanced cases, and worst in disseminated cases. For this reason, periodic evaluation of the prostate by a primary care physician is recommended.
Autoinflammatory syndromes are a group of conditions characterised by spontaneous, recurring or persistent episodes of multi-systemic inflammation. They are caused by changes to innate immunity that cause deregulation of the immune system. Autoinflammatory conditions, due to various genetic mutations, cause a pathological hyperactivity in this structure, which unleashes abnormal, continuous inflammatory activity. The number of conditions the group includes has increased since then, due to the advances in genetics and immunology.
The main symptom of many of the conditions included in the group is repeated episodes of fever, which spontaneously disappear after a few days, only to reappear again cyclically after a variable period of time. This fever is not caused by an infection and, therefore, does not respond to treatment with antibiotics or antiviral medication. Depending on the genetic defect, these conditions may be associated with a wide diversity of other manifestations, including skin, abdominal, joints, eyes or lungs.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The majority appear in infancy or adolescence.
Recent progress with research has clearly shown that some fevers where the cause is not found are provoked by a genetic defect.
Depending on whether or not they have a genetic cause, they can be classified as follows:
The diagnosis is based on the clinical features of each patient’s clinical picture. Blood tests are important in diagnosing the various autoinflammatory conditions, as they enable detection of the existence of inflammation. These analyses are repeated when the child is asymptomatic to see if they have normalised. Molecular or genetic analysis enables detection of the presence of mutations involved in the development of autoinflammatory conditions which are studied in patients suspected of suffering from them according to the features of the clinical picture. The diagnosis is confirmed when the patient shows evidence of being a mutation carrier and it is often necessary to study family members too.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. For example, for familial Mediterranean fever, the treatment of choice is colchicine. Other treatments used on the various autoinflammatory conditions are cytokine inhibitors, such as IL-1 or the tumour necrosis factor α. Close monitoring of the patient is essential to prevent complications arising in the long term.
Informació pràctica com a CSUR de malalties autoinflamatòries
Juvenile idiopathic arthritis (JIA) is a chronic disease characterised by persistent inflammation of the joints that begins before the age of 16.
There are various types of JIA which can be identified by the number of joints affected and the presence of symptoms such as fever and skin manifestations, amongst others. The diagnosis is made by observing the symptoms during the first 6 months of the disease.
The main symptoms are pain, swelling and increased heat in the joints, with stiffness and difficulty moving. Sometimes the beginning is slow, insidious and progressive. The child may be tired or irritable, if they are younger. Older children may notice stiffness when moving their joints when they get up in the morning. At other times, the beginning is acute and serious, with the presence of general symptoms such as general malaise, fever, blemishes on the skin and several swollen joints.
JIA is a relatively rare condition that affects 1 or 2 children in every 1,000.
JIA diagnosis is based on the presence of persistent arthritis and carefully excluding any other condition by using the clinical history, physical examination and blood tests.
JIA is considered where the condition begins before the age of 16, the symptoms last for more than 6 weeks and other conditions that may be responsible for arthritis have been discounted.
The treatment must be put in place early and each child must be considered individually, which means that the therapy will have different levels of intensity depending on the type, time and seriousness of the condition.
Its aim is to care for the child’s all-round physical and psychological development, to try and improve all aspects of their quality of life.
To ensure that there are no after-effects, or that these are minimised, there must be ongoing effort and close collaboration between the child and their parents or family and the various specialists. It is essential that the family understands this disease. The child will begin to learn about it according to their age.
When it comes to diagnosis, certain analytical tests are valuable, along with examinations of the joints and eye tests for a better definition of the type of JIA and identification of the patients at risk of developing specific complications, like chronic iridocyclitis.
The rheumatoid factor (RF) test detects this autoantibody which, if positive and found persistently in high concentrations, indicates a subtype of JIA.
Antinuclear antibodies (ANA) usually test positive in tests on patients with early onset oligoarticular JIA. The population of patients with JIA has a greater risk of developing chronic iridocyclitis and, therefore, eye tests using a slit lamp should be scheduled (every three months).
HLA-B27 is a cellular marker which tests positive in up to 80% of patients with arthritis associated with enthesitis. In contrast, it is only positive in 5%-8% of healthy people.
Other examinations are valuable, such as the erythrocyte sedimentation rate (ESR), or C-reactive protein (CRP), as these measure the degree of general inflammation. Nevertheless, diagnostic and treatment decisions tend to be based more on the clinical manifestations that appear rather than the analytical tests.
Depending on the treatment, patients may need periodic tests (such as haemograms, liver function tests, or urine tests) to check for treatment side effects and any pharmacological toxicity that may not show any symptoms. Joint inflammation is mainly assessed by clinical examination and, sometimes, using imaging studies, such as ultrasound. Periodic X-rays or magnetic resonance (MRI) scans can be helpful in assessing bone health and growth and in personalising the treatment.
Associació Espanyola de Febre Mediterrània Familiar i Síndromes Autoinflamatoris
FEDER
Lliga Reumatològica Catalana
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.
Aortic pathologies include all the diseases that affect the aortic artery. The aortic artery is the largest and most important artery in the body, emerging from the heart and carrying blood to the rest of the body. This artery can be divided into four parts: aortic root, ascending aorta, aortic arch, and descending aorta. Each part can have its particular pathologies and, equally, different treatments.
The symptoms of aortic pathologies are highly variable and depend on which part of the aorta is affected.
If something is wrong with the aortic root, this can trigger a failure of the aortic valve, leading to symptoms of left-sided heart failure and shortness of breath, chest pain, and/or palpitations.
Lesions of the ascending aorta, aortic arch, and descending aorta are usually chronic and most of the time do not cause symptoms. Only in cases of an acute injury (aortic dissection, haematoma, or rupture) will the patient experience sudden thoracic or abdominal pain.
Aortic pathologies can affect people ranging from newborns to the elderly, with no differences in prevalence by gender. There are risk factors that increase the incidence of this group of disorders: high blood pressure, connective tissue disorders (Marfan syndrome, Loeyz-Dietz syndrome, etc.), and a malformation of the aortic valve, among others.
A correct individual and family medical history is needed to diagnose these pathologies. It is also essential to carry out imaging tests such as an echocardiogram, CT angiography of the aorta, and/or an MRI.
It is essential to know, understand, and control the risk factors that increase the incidence of these pathologies. The definitive treatment consists of replacing the affected part of the aorta or, in some specific cases, endovascular treatment with the placement of a stent.
These patients typically need a transthoracic or transoesophageal echocardiogram, a CT angiography, and they often need an MRI.
It is possible to prevent these pathologies by controlling blood pressure and correctly monitoring the affected aorta with imaging tests to detect changes in size or possible complications over time.
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