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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.
A rare slow-growing chronic blood cancer. It is mainly characterised by increased production of red blood cells, associated with greater risk of clotting, both in veins and in arteries. It has non-specific symptoms, such as increased facial redness and bodily itching. Although there is currently no cure, it can be effectively controlled.
It is included within the group of chronic myeloproliferative disorders. Its cause is not known, although there are known mutations associated with it in the JAK2 gene that occur in 98% of cases. It is not hereditary, but some families may have several members affected by it.
It is characterised by increased production of red blood cells (the number of white blood cells and platelets may also go up) and is associated with increased risk of clotting in arteries or veins.
It is a chronic disease, which cannot currently be cured. 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.
There may initially be no symptoms. Facial redness is characteristic of this condition. Patients often present with tiredness, headaches, dizziness and itching (particularly after showering). They may also experience abdominal pain due to increased spleen size.
It mainly affects patients around 60 years old and is a little more common in men than in women.
Mainly done through an analysis revealing high levels of haemoglobin and haematocrits. The number of platelets and white blood cells may also be elevated. A molecular test is also sometimes conducted (JAK2 gene mutation). Other tests may sometimes be needed to complete the diagnosis, such as a bone marrow biopsy.
Treatment aims to prevent complications and control symptoms. It is based on decreasing excess red blood cells by phlebotomies (blood extractions performed in the blood bank). Except for some contraindications, patients require antiplatelets (acetylsalicylic acid). Other drugs to reduce red blood cells may also be indicated.
The most important thing is preventing 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.
They are a heterogeneous group of blood stem cell cancers characterised by altered haematopoiesis (production of blood elements), which results in normal or hypercellular bone marrow, but due to a high rate of death in blood cells in the bone marrow, peripheral blood cells are scarce (cytopaenia) and morphologically abnormal (dysplasia).
Clinical progression in patients with MDS varies, and they may be at increased risk of developing acute leukaemia, depending on the subtype of MDS.
They may appear de novo or secondary to cytotoxic treatments or radiotherapy.
Patients with MDS often show no symptoms and diagnosis occurs as a result of analytical testing. When symptoms do appear, however, they are most often secondary to cytopaenia. The most common are weakness, paleness, palpitations or feeling short of breath with exertion due to decreased haemoglobin (anaemia). Sometimes, infections may appear as a result of lack of white blood cells (neutropaenia) or bleeding due to the low number of platelets (thrombocytopaenia). These symptoms are not specific to the condition and therefore those with persistent appearance of these symptoms should consult their GP.
MDS are not common conditions. 3-4 new cases are detected each year for every 100,000 people. They are more common in patients over 65 years old (75 cases/100,000 people) and they are twice as common in men as in women.
The diagnostic process begins with an analysis to look for cytopaenia. Once other causes that may justify cytopaenia are ruled out, a bone marrow exam is conducted using bone marrow aspiration (this is the organ responsible for producing the blood elements).
Bone marrow aspiration consists of a puncture in the breastbone or in one of the pelvic bones, performed with a fine needle under local anaesthesia. 4-10 ml of bone marrow is extracted through aspiration. In rare cases, it is necessary to remove a bone core by puncture biopsy with a thick needle (Tru-cut). Sometimes, the test needs to be repeated after some time to confirm the diagnosis.
Treatment will depend on the biological characteristics of the condition and the patient’s general state of health.
It is based on:
1. Support treatment through blood transfusions.
2. Treatment using drugs that aim to restore correct bone marrow function.
3. Bone marrow transplant. Replacing the bone marrow of the person affected with that of a healthy person who is immunologically compatible. This option is very aggressive and can therefore only be offered to a certain group of young patients in good physical health and affected by a specific group of MDS.
4. Clinical trials. Studies that use new drugs with proven efficacy in this group of conditions.
Lung cancer is the general name for neoplastic lung disease in which there is the presence of tumour cells. There are different types of lung cancer, but all of them share tobacco use as a risk factor. It is usually detected by the symptoms it causes, but it can also be an incidental finding in an examination conducted for a different reason.
Lung cancer originates when a set of cancer cells proliferates and produces a local compromise in the space occupied. These cells have a tendency to spread (metastasis) to other organs and, as their biological behaviour is completely abnormal, they produce atypical neurological, dermatological or endocrine signs. There are different types of lung cancer from a cell classification perspective, which require different treatments and prognosis. Lung cancer is always a serious illness, with an overall low survival rate estimated at 20% of patients after 5 years.
Research into this disease in the last few years has led to new treatment strategies, which in some cases cause the disease to go into remission for long periods.
90% of people will have symptoms caused by local tumour growth, including non-specific respiratory symptoms such as coughing and difficulty breathing, or in some cases coughing up blood.
There can also be a wide variety of symptoms: pleural effusion (presence of fluid in the pleura), involvement of the nerve roots that pass through the chest, skin disorders and endocrine disorders because the tumour may produce products that are similar to normal hormones.
It affects both sexes, with a predominance in males. Incidence of lung cancer in women has shown a very worrying increase in the last few years. Although it can be seen in people who have never smoked, a history of smoking is almost always found.
A suspected diagnosis will be made in the clinic and imaging tests will then be conducted in the following order: Chest x-ray, CAT, PET-CT to confirm the suspicion. The types of cells involved will then be ascertained through pleural tap or bronchoscopy. Final diagnosis is always reached by confirming the presence of tumour cells, which is done by the Pathological Anatomy Department.
Lung cancer treatment must be personalised. Surgery can play its role, both in diagnosis and in treatment, as well as radiotherapy, chemotherapy, immunotherapy and the use of biological drugs aimed at blocking certain cell receptor, which are different in each patient.
The typical tests for diagnosis are chest radiography, CAT, PET-CT, pleural aspiration/tap and bronchoscopy.
In order to prevent lung cancer, completely abstaining from tobacco use is essential. Exposure to certain environmental toxins specific to some working environments, such as arsenic, asbestos and chrome should also be avoided.
Myelofibrosis is included within the group of chronic myeloproliferative disorders. It may appear de novo (primary) or following polycythaemia vera or essential thrombocythaemia.
It is characterised by bone marrow fibrosis, progressive defect in blood cell production and marked presence of constitutional symptoms, as well as an enlarged spleen and liver that attempt to compensate for the production of red blood cells.
Approximately one third of patients have no symptoms. Diagnosis is made by studying alterations in control analyses.
The symptoms appear gradually, with marked tiredness, night time sweating, fever, loss of muscle mass, loss of appetite and abdominal pain being the most common. They are not exclusive symptoms of this disease, so if they are present, it is advisable to consult your GP who will refer you to the corresponding haematology department if they suspect a diagnosis of myelofibrosis.
It is a disease that can remain stable for a long time, or present in very symptomatic forms.
It is considered a rare disease, with a low incidence of 5-7 cases per million inhabitants per year. It mainly affects people aged 60-70 years.
Diagnosis begins with the study of the aforementioned symptoms, of alterations in the physical examination (such as an increase in spleen size) or of alterations in the analysis such as anaemia, decreased white blood cells and platelets, among others.
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 will guide treatment.
Treatment is determined by the risk of disease progression, patient characteristics and the presence of symptoms.
The only curative treatment for the moment is blood stem cell transplant, which can be offered to a small group of patients, as it usually presents in older patients who are not candidates for this type of treatment.
Therefore, the main goal of treatment today is to control symptoms and prevent complications. Drugs such as erythropoietin, danazol and others, including blood transfusions, are used to control symptoms related with anaemia.
To control symptoms or increased spleen size, hydroxyurea and ruxolitinib are mainly used.
Clinical trials exist that seek to improve current treatment. Consult your haematologist to find out which are available.
It is usually monitored with analyzes.
Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative motor neurone disease in adults. It is also known as Charcot disease after the famous French neurologist Jean-Martin Charcot who discovered it in 1869. In North America, it is known as Lou Gherig’s disease in honour of a famous baseball player who died at 38 years old as a result of this disease.
Amyotrophic Lateral Sclerosis manifests in the form of progressive paralysis that affects most of the muscles in the diaphragm. The life expectancy is less than five years. In rare cases, longer survival times may be observed, especially if artificial ventilation devices are provided.
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.
Somatic symptom disorder is a disorder characterised by the presence of persistent somatic symptoms accompanied by thoughts, feelings and behaviours related to health that are excessive and disproportionate. The symptoms may have a known medical cause or not, and cause the patient to frequently attend primary care departments, A&E and/or specialists.
Somatic symptom disorder, according to the diagnostic and statistical manual of mental disorders (DSM-5) from the American Psychiatric Association, is a disorder involving one or more persistent somatic symptoms, with or without a medical explanation, accompanied by excessive and exaggerated thoughts, feelings or behaviours. At the same time, there is a severe decrease in the quality of life of the people who suffer from the condition.
The origin of the disorder is unknown, but we do know that it is exploited by multiple biological, psychological and environmental conditions, which interact in a non-linear way and predispose the patient to present with the condition. There is often a tendency for patients to attend multiple specialists, with several requests for complementary testing, which can often become iatrogenic, with the patient often feeling misunderstood and ill-treated by the healthcare system. The most common symptom is pain and the systems most commonly affected are the digestive system, the musculoskeletal system and the skin.
A. One or more somatic symptoms that are distressing or result in significant disruption of daily life.
B. Excessive thoughts, feelings or behaviours related to the somatic symptoms or associated health concerns as manifested by at least one of the following:
1. Disproportionate and persistent thoughts about the seriousness of one’s symptoms.
2. Persistently high level of anxiety about health or symptoms.
3. Excessive time and energy devoted to these symptoms or health concerns.
The prevalence of the disorder in the general population is around 5-7% and in primary care populations it broadly ranges from 5-35%. It is proportionately more common in women, with a ratio of 2:1 compared to men and often starts towards the beginning of adulthood. 30% of people suffering this disorder tend towards chronicity.
Diagnosis is CLINICAL. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are several scales to evaluate the severity of symptoms or associated comorbid disorders.
It needs to be tackled in various ways: Psychoeducation, cognitive behaviour therapy and pharmacological treatment in the case of comorbid psychiatric conditions. The cornerstone of treatment is a good doctor/patient relationship, avoiding unnecessary and iatrogenic complementary testing.
Clinical history. Psychological evaluation. Blood test, vital signs, weight and height.
Work with healthcare professionals through regular and scheduled appointments and adequate management of requests for complementary tests in order to avoid iatrogenic illness. Do regular physical exercise, try to rest well at night, stay active and take part in employment and/or leisure activities, learn and practise relaxation therapies such as mindfulness and avoid consuming toxic substances.
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.
Chronic pelvic pain is defined as "chronic or persistent pain in the structures related to the pelvis in both men and women". It commonly impacts on cognitive, sexual and emotional behaviour. It often manifests as gynaecological, sexual, intestinal or pelvic floor dysfunction. A MULTIDISCIPLINARY approach must therefore be taken to treatment.
Chronic pelvic pain lasts for six months or more and affects the pelvic area, the abdominal wall of the bellybutton and below, the lumbosacral area of the back and/or buttocks and is of sufficient intensity to cause disability in the patient and/or require medical attention.
This has a clear effect on the quality of life of people suffering from the condition.
Its origin is unknown, but we do know that it is exploited by multiple biological/organic, psychological and environmental conditions, which interact in a non-linear way and predispose the patient to present with the condition. There is a clear trend for patients to attend multiple specialists, with requests for complementary testing, which can become iatrogenic, with the patient often feeling misunderstood and ill-treated by the healthcare system.
As it is more of a clinical condition rather than a diagnosis as such, the symptoms can vary a lot, but they always centre around persistent pain. It has a major impact on women of reproductive age and its impact on quality of life varies depending on the causes. It is worth remembering that it gravely impacts on patients’ sex lives and this can cause very significant psychological issues.
According to research, the prevalence of pelvic pain in epidemiology is vary variable. This almost certainly has to do with sociocultural aspects. According to the latest studies, it could be as much as 6.4-25.4% in women and lower in men, at around 2-17%. It is very likely that in the case of men there is an underestimation of this prevalence as there is less willingness to look at problems that also affect the sexual sphere.
Diagnosis is clinical. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are different scales to assess the severity of symptoms or associated comorbid disorders, and neuropsychological tests that evaluate cognitive difficulties in terms of attention and concentration. There are also some useful complementary tests to rule out organic causes and make a good diagnosis.
A multi-modal approach is required: psychoeducation, psychological treatment and pharmacological treatment. If the condition is also affecting the patient’s sexuality, we must consider tackling the issue with the patient’s partner as a priority. Several drugs have been shown to help control the symptoms. It very important for treatment to create a good doctor/patient relationship, avoiding unnecessary and iatrogenic complementary testing.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height. Neuroimaging. Scans.
Work with healthcare professionals from the different specialisms that treat chronic pelvic pain. Schedule regular appointments and manage requests for complementary tests and medical interventions to prevent iatrogenic illness. Do regular physical exercise, try to rest well at night, stay active and take part in employment and/or leisure activities, practise relaxation therapies such as mindfulness and avoid consuming toxic substances. Rehabilitation physiotherapy.
A congenital deficiency in Factor VIII activity (deficiency in clotting factor) and as such is transmitted genetically. The altered gene is found on the X chromosome and often affects mainly men (sufferers), whilst women are carriers and do not suffer from the disease.
Although they may have one X chromosome affected, females are able to compensate for symptoms using their second X chromosome.
Blood clotting depends on the interaction of different proteins circulating in the plasma, which are called clotting factors. These proteins interact with platelets to form a blood clot. There are different diseases due to a lack of clotting factors or a lack of platelet function. The most important of this group is haemophilia due to a deficiency of clotting Factor VIII.
The symptoms will depend on the levels of Factor VIII in the blood plasma, although the following are common:
-Haemarthrosis (bleeding in the joints, especially in the knees)
-Severe muscle haematoma (may affect the muscles in the back)
-Connective tissue haematoma (bleeding from the abdomen or floor of the mouth)
-Mucosal bleeding (especially in the gums)
-Occasionally intracranial bleeding: not typical, but very serious
As it is a genetic disorder, it can affect people of all ages, from the moment a child is born if there is a trauma during the birth, or when they start to crawl or walk. Spontaneous bleeding may occur or bleeding after minor trauma.
Diagnosis is made in the haemostasis laboratory:
-Activated partial thromboplastin time or prolonged APTT.
-Kasper test: the patient’s plasma is mixed with a control plasma, and if it normalises, it means that the control Factor VIII has balanced out the patient's loss.
-Genetic diagnosis: look for a mutation in the Factor VIII gene.
Currently the treatment consists mainly of the administration of recombinant Factor VIII, obtained through biotechnological procedures. The problem is that antibodies are produced that neutralise this recombinant factor within one or two days, so the patient must be prophylactically injected. There are new long-term treatments with fewer infusions per week and another subcutaneous infusion.
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