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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.
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:
Genetic predisposition to cancer is an increased risk of developing cancer due to alterations in specific genes. It is not inherited cancer, but a predisposition. Suspected when cancers occur in multiple generations, at young ages, or multiple tumors in one person. Genetic testing uses blood, saliva, or biopsy and guides early detection, prevention strategies, intensive monitoring, and sometimes prophylactic surgeries.
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.
Foetal alcohol syndrome disorder (FASD) is characterised by cognitive, behavioural and physical problems caused by exposure to alcohol during pregnancy.
FASD may result in physical symptoms (such as facial abnormalities), growth retardation, damage to the nervous system and cognitive and/or behavioural problems. 90% of people with FASD suffer from psychological disorders, attention deficit hyperactivity disorder (ADHD) being the most common.
The main symptoms of FASD are poor memory and attention span, learning difficulties, problems with recognising cause and effect and lack of social skills and emotional self-regulation. These issues may lead to secondary complications such as poor academic performance, legal issues, inappropriate sexual behaviour, substance abuse and problems finding employment as an adult.
Babies exposed to alcohol in the womb.
FASD diagnosis requires not just physical examination but also neurocognitive and behavioural assessment.
Treatment for FASD is multidisciplinary and often requires a combination of psychology and pharmacology. The psychological approaches shown to be most effective are based on training in social skills, emotional self-regulation and guidelines for parents on how to manage the conflicts involved in having a child with FASD. Appropriate interventions for FASD also involve relevant adjustments to the child’s education.
Psychological monitoring should include both the patient and their parents or guardians. The psychological treatments available include: group treatment (for teenagers and parents), one-to-one psychological treatment and assisted therapy with dogs.
Interventions are based on the age of the child/teenager and their cognitive difficulties. Before any psychological intervention, a neuropsychological assessment must be performed to indicate which cognitive functions the patient has most difficulty with. Treatment can then be adapted to their abilities and carers can manage their expectations and adapt the child/teenager’s environment according to their behaviour.
Clinical history. Psychological interview. Neuropsychological examination. Physical examination and in some cases MRI and EEG tests.
The best way to prevent FASD is to avoid drinking alcohol during pregnancy. Patients with this syndrome have the best prognosis when diagnosed early (before 6 years old) and within a stable family environment.
A rare chronic blood disease that is slow to develop. It is characterised by increased platelet production and is associated with greater risk of thrombosis (clotting) and bleeding. Patients with essential thrombocythemia are usually asymptomatic and it is detected during routine blood tests. There is currently no cure for this condition and treatment is targeted at preventing complications.
It is included within the group of chronic myeloproliferative disorders, which are a type of blood cancer that is slow to develop. Its cause is not known, although there are mutations known to be associated with the condition in 80% of cases. It is not hereditary, but some families may have several members affected by it.
It is characterised by increased platelet production and is associated with greater risk of clotting in the arteries and veins, or in some cases with bleeding.
It is a chronic illness that cannot currently be cured, with a normally benign evolution. It can be effectively controlled over long periods and generally has little impact on daily activities and work. Patients with this condition have increased risk compared to the general population of developing other blood diseases, such as acute leukaemia or myelofibrosis.
Many patients show no symptoms, either when they are initially diagnosed or as the condition evolves. Different combinations of symptoms may appear, such as tiredness, itching, night time sweating, aching bones and headaches.
The severity of symptoms varies a lot depending on the patient.
It is considered a rare disease, with a low incidence of 1.5-3 cases per 100,000 inhabitants. It mainly affects people aged 60-70 years and to a lesser extent young people. It is more common in women
It is normally diagnosed through blood tests that show a sustained increase in platelet count.
A bone marrow biopsy can be performed for diagnosis, which, together with the analysis, will allow the determination of risk factors for the progression of the disease, which in turn guide treatment.
It is usually associated with genetic mutations that support diagnosis.
Administering antiplatelets or drugs to reduce the number of platelets is not always indicated.
The aim of treatment is to prevent complications due to clotting and bleeding, as well as controlling the symptoms related to this condition. Depending on the risks and symptoms, the haematologist will therefore determine when to start treatment.
There are special circumstances, such as pregnancy, in which a multidisciplinary approach is required.
It is usually controlled by analysis.
The most important thing is to prevent clotting complications associated with this condition by controlling cardiovascular risk factors (high blood pressure, dyslipidaemia, smoking, obesity, sedentary lifestyle) and following the treatment recommended by your haematologist.
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting the motor neurons in the brain and spinal cord, causing progressive paralysis of muscles, including the diaphragm. Early symptoms may include muscle weakness, difficulty speaking or swallowing, and the disease often leads to respiratory failure determining survival. Diagnosis is clinical and by exclusion, and current treatment focuses on symptom management and supportive care in multidisciplinary units.
ALS is a neurodegenerative disease caused by the death of motor neurons in the brain and the spinal cord.
There are two types of motor neuron: upper and lower. The first are found in the motor cortex and establish connections with the lower motor neurons located in the brain stem and spinal cord, which innervate muscles. When the upper motor neurons die, spasticity, weakness and hyperreflexia appear.
When the lower motor neurons die, twitching, weakness and muscle atrophy occur. Other neuron populations can also be affected, such as the temporal and frontal behavioural and executive circuits.
Epidemiologically speaking, ALS has an incidence of 1.5-2 new cases a year per 100,000 people (3 new cases are diagnosed per day in Spain). The total number of cases (prevalence) is 2-5 per 100,000. According to this data, the total number of patient with ALS in Spain is approximately 4,000 cases. This is why it is included in the rare or minority disease group.
90% of cases of ALS are sporadic (no family history). Around 10% of ALS cases are familial, usually inherited as dominant traits. The incorporation of new molecular genetics techniques in the field of research has allowed more than 25 genes involved in ALS to be identified.
As a consequence of the continuous decrease in motor neurons, symptoms of the disease appear. These usually depend on the location of the motor neurons undergoing the most advanced processes of degeneration. In most patients (70%) the first symptom is loss of strength with muscular atrophy in the hands or clumsiness when walking, with frequent falls. In approximately 25% of patients, the first symptom is difficulty talking or swallowing, which indicates that degeneration of the bulbar motor neuron population is the most intense. There are also other possibilities for clinical presentation of this disease, although much less frequent: respiratory failure, weight loss or unexplained lack of energy (asthenia), cramps and twitches in the absence of muscle weakness, spasticity in legs, rapid mood changes or cognitive impairment.
In advanced phases, the disease can also paralyse the eye muscles. In the final stages of the disease, paralysis of the respiratory muscles leads to respiratory failure, which is often the cause of death.
The condition particularly affects people aged between 40 and 70. The incidence is greater in men (3:2.2 per 100,000) in sporadic forms. The age of first onset of symptoms reaches its peak between 58 and 63 years old in sporadic cases and between 47 and 52 years in familial forms. Incidence decreases markedly after the age of 80. The risk of suffering ALS is 1:400 for women and 1:350 for men.
The differing ways in which ALS manifests is one of the two reasons for a delay in suspected diagnosis of the disease, which can be up to 15 months. The other is that there is no test or biomarker to objectively confirm the diagnosis in the initial stages of the condition. A diagnosis of ALS is a diagnosis of exclusion, based on clinical criteria and conducting tests (MRI, clinical analysis, genetic tests, electromyography, EMTC, neuropsychological exam, nuclear medicine techniques and others) to rule out other illnesses with similar clinical findings. In most specialised ALS units, the disease diagnostic criteria used are the revised El Escorial criteria and the Awaji-shima criteria.
There is currently no medication that can cure or stop the disease. Riluzole and Edaravone are the only medications approved for ALS treatment, although their effect on survival is moderate (months).
The European (EFNS) and American (ANA) associations of neurology recommend that patients with ALS be treated in specialised centres, where possible in multidisciplinary units, so that they might be prepared for any complications. These units should offer solutions to control the symptoms, including the use of a feeding tube, control of saliva secretions, cough assist devices, respirators for mechanical ventilation, technology to improve the patient’s ability to move around and facilitate communication in patients who have lost the ability to speak.
These multidisciplinary units are the centres preferred by those running new drug trials.
The reality is that there is currently no effective treatment, although patients and their relatives often desperately search online for miracle drugs that might cure the condition. ALSuntangled, a group made up of 80 international experts in ALS, was born with the aim of protecting these patients from the numerous products advertised. It mission is to review the veracity and safety of the alternative treatments offered online that have not gone through the proper regulatory channels. It publishes its results in the official magazine for the disease and on its website.
Diagnostic imaging techniques (MRI, CAT, PET), electrophysiology (electromyography, EMTC, PESs), laboratory analysis (haematology, biochemistry, antibodies, hormones, enzymes, serology, genetics), respiratory functional tests, gasometry, pulse oximetry, overnight pulse oximetry, capnography, BMI, calorimetry, lumbar puncture, functional scale for the disease (ALS-FRS-R). A muscular biopsy may be required in exceptional cases. It is advisable to admit the patient in order to arrange for testing and offer them a report on discharge detailing the ALS diagnostic category and degree of functional repercussion (ALS-FRS-R).
Although various environmental risk factors have been suggested (geographic, occupational, dietary habits, proximity to electrical channels, contact with pesticides or other neurotoxins), there is no agreement on preventative measures to take.
In family forms, it is possible to offer genetic counselling to people with a desire for offspring.
During the natural course of the disease, complications often appear that may be prevented and treated. Among the most significant are malnutrition, respiratory failure, hypersalivation, spasticity, pain, loss of independent movement and communication, depression, anxiety, sleep disorders, bed sores, cognitive deficits and burden on carers.
Haematological disease characterised by the growth of ganglia with or without an increase in the number of white blood cells in the blood. It may also be accompanied by weight loss, burning pain, excessive sweating or increased frequency of infections.
Lymphomas are a very diverse group of diseases within the field of oncology. The cancer cell of a lymphoma is the lymphocyte, the main cell in the patient’s immune system, the functions of which are defence against infections and tumour surveillance.
Lymphocytes, alongside other cells, form the population of white blood cells or leukocytes in the blood. According to their function in the immune system, lymphocytes may be B, T or NK type. For this reason, the lymphomas that derive from them are also B, T and NK type.
The World Health Organization (WHO) classifies them into two large groups: Hodgkin’s lymphoma and Non-Hodgkin’s lymphoma, and these two groups currently include more than 60 different types of lymphoma.
Lymphocytes are mainly found in the blood and in the lymphatic organs: ganglia, spleen and bone marrow, but as they are cells that circulate in the blood, they can actually be found in any organ of the body, as their defence function is necessary throughout the body. For this reason, although it is more frequent in the lymphatic organs, a lymphoma can occur in any organ of the body: the skin, the digestive tract, the central nervous system, etc.
The symptoms depend on whether the type of lymphoma that the patient has is aggressive or indolent:
Aggressive lymphomas are diseases that progress rapidly and always bring about symptoms, because the tumour lymphocytes multiply at a high rate. The symptoms are rapid growth of ganglia, spleen and/or tumour masses, weight loss, excessive sweating, fever and/or unexplained burning pain. If one of the ganglia or tumour masses grows near an organ, it may compress it and symptoms may also appear that lead to suspicion. This type of aggressive lymphoma always needs preferential treatment when it is diagnosed.
In contrast, indolent lymphomas are those in which the enlargement of the ganglia, spleen or tumour masses is very slow. Most patients do not have any symptoms of the disease and can be monitored without treatment. Only in the event that, at any time, node growth and/or the onset of symptoms is observed, would it be necessary to treat the patient, which is why monitoring is essential in all patients with lymphoma, whether or not they have symptoms.
Lymphomas are not very common diseases compared to other types of tumour. Non-Hodgkin’s lymphomas are the 6th most common cause of cancer in Europe, comprising only 4% of all annual cases, whilst Hodgkin’s lymphoma is even rarer: 1% of all annual cancers. Lymphomas are most common in males and in older people, with the greatest incidence occurring between 70 and 80 years old. In younger patients, Hodgkin’s lymphoma is more common, as well as some subtypes of non-Hodgkin’s lymphoma.
The incidence of both types of lymphoma has increased over the last 20 years and is expected to continue to increase.
The factors associated with greater risk of developing a lymphoma are not as well known as other types of cancer, but some types of lymphoma appear to be associated with viral infections, certain professions, exposure to toxic substances, immune system alterations or ionising radiation. Although several cases of lymphoma may be diagnosed in the same family, the actual risk cannot be predicted in relatives of a patient with lymphoma, and therefore screening tests are not helpful.
To diagnose a lymphoma, a lymph node or suspected tumour mass biopsy is required. The biopsy confirms or rules out the suspicion and identifies the type of lymphoma according to WHO criteria.
The extent of the disease and possible individual risk factors are then studied and the type and intensity of treatment is decided. Laboratory tests on blood and bone marrow, a complete physical examination and imaging tests are performed to assess all possible locations of lymphoma, usually CT or PET-CT scans. If there is also a suspicion of lymphoma in other less common organs, additional tests may be necessary (for example, an endoscopic study if intestinal disease is suspected, or a skin biopsy if it is thought that the lymphoma may affect the skin, etc.).
The treatment of lymphomas is based on chemotherapy, which can be accompanied in specific cases by targeted radiation therapy aimed at a localised area to intensify the effect of treatment. In B lymphomas, chemotherapy is combined with a monoclonal antibody, rituximab, which makes it more effective. In some types of lymphoma, after treatment it may be necessary to add a strategy to prolong the response obtained, such as bone marrow transplantation or maintenance treatment.
The type of treatment is personalised according to the type and spread of the lymphoma, the characteristics of the patient, such as age and general health, and whether the expectations are that the disease may be cured or that only palliative care may be given.
Treatment of lymphoma may also be done in clinical trials, where new treatment options are investigated that may improve the outcomes of current treatments, or offer options to patients whose disease has not responded or has recurred after treatment was received. Your haematologist will advise you on which trials are available and which are best suited for you.
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.
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