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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.
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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 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.
The Multidisciplinary ALS Unit in the Neurology Department at Vall d’Hebron University Hospital is accredited by the Generalitat de Catalunya, Spanish Government (CSUR) and by the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD).
Professionals from the following specialisms make up this unit: Case handling, nursing, social care, neurology, pneumology, rehabilitation, nutritional support, neuropsychology, physiotherapy, speech therapy, endoscopy, interventional radiology, technicians for increasing communication (UTAC).
The coordinator is Dr. Josep Gamez.
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.
Cystic fibrosis 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.
Infectious disease caused by the microorganism Mycobacterium tuberculosis, which mainly affects the respiratory system and requires prolonged and uninterrupted treatment to cure. If treatment is interrupted, it can become resistant to drugs, which makes it harder to cure.
The reservoir of Mycobacterium tuberculosis is humans and it is usually an airborne disease. Transmission is caused by living in close proximity to someone with pulmonary tuberculosis. It is important to be aware that we are talking about a disease that can be treated, cured and eradicated, which means that it could disappear from the human population.
At the moment, however, it is the primary cause of death from infectious disease on the planet. Factors such as resistance to first-line drugs or coinfection make it difficult to treat the disease and increase its mortality rate.
The symptoms of tuberculosis depend on the organ that is infected. In the case of pulmonary tuberculosis, the most common symptoms are chesty cough, fever, weight loss and sweating at night. A diagnosis of tuberculosis should be considered when these symptoms last for more than 3-4 weeks.
It can affect anyone who has been in contact with infected patients.
Tuberculosis is diagnosed according to the patient’s symptomatology, the findings of a physical examination and the results of complementary testing. Microbiological tests constitute an essential pillar for diagnosis. Some tests include micobacteria cultures, microscopic techniques and evidence of molecular biology.
Patients have a confirmed diagnosis when the microbiological tests are positive. If they are not positive, they are said to have a probable diagnosis.
Conducted by means of several drugs to avoid resistance. The length of treatment is prolonged (minimum six months) because many drugs acts on the dividing bacteria and this microorganism is slow growing. Where possible, all tablets are administered in one single sitting per day to make following the treatment plan easier.
Chest x-rays, general tests, cultures of biological samples.
There are no specific prevention measures to avoid infection.
Tobacco consumption is the leading cause of health loss and premature and preventable death. It is one of the most important risk factors for the main chronic cardiovascular and respiratory diseases, as well a large number of cancers. In addition, passive exposure to tobacco smoke increases the risk of lung cancer and other diseases in non-smokers. The harm caused directly by smoking mainly affects smokers, a quarter of whom will die during their working life and have lost between twenty or twenty-five years of their life. But tobacco consumption also affects society as a whole.
It is estimated that 90% of lung cancers are caused by tobacco (5-8% of which are caused by passive smoking!). The most important is that an active smoker has a 13 times higher risk of lung cancer than a person who does not smoke, and a passive smoker has a 1.5 time higher risk (on average).
The harmful agent is smoke, which is composed of some 4000 different chemical substances, of which more than 40 are carcinogenic. There is a clear relationship of increased risk with several factors such as: the age you start smoking, the duration, the pattern of inhalation and obviously also the degree of consumption.
The benefits of giving up smoking are very clear; ex-smokers, ten years after quitting the habit, have the same risk of contracting diseases as non-smokers. Giving up smoking for good, however, is not easy, even if it is very possible. If in doubt, you are advised to consult a health professional and follow their advice.
Tobaccoism is a drug addiction involving behavioural, social and pharmacological factors.
Smokers' symptoms start with an irritating and chronic cough and may result in more serious problems such as heart attacks, shortness of breath, strokes or cancer in various parts of the body, mainly the lungs, the bladder, etc.
Smokers are people who consume tobacco, whether regularly or sporadically. The consequences depend on several factors, such as number of cigarettes, depth of inhalation, retention time of smoke in the lungs and years of consumption.
Passive smokers are people who do not smoke but inhale the tobacco smoke of others.
Diagnosis is based on the medical history taken from all patients when they attend a health consultation, whether with a nurse or a doctor.
In the majority of cases, smokers try to give up smoking through their own efforts and most succeed.
In other cases they need the help of professionals, such as nurses, doctors or psychologists.
When it comes to giving up smoking, psychological treatment is always very important; sometimes drugs are also needed, such as nicotine derivatives (patches, gum, sachets or oral sprays), varenicline and bupropion, which have proved effective with smokers.
Carboximeter breath analysis: determines the amount of carbon monoxide in exhaled air.
Fagerström test: for nicotine dependence
Richmond Test: assesses smoker’s motivation for giving up smoking
Giving up smoking is the best way to prevent the consequences of tobaccoism
The thyroid gland, which is located in the anterior part of the neck and is shaped like a butterfly, produces thyroid hormones, which regulate the metabolism of the entire human body. They therefore influence, for example, our temperature and heart rate. The main causes of hyperthyroidism are: Graves’ disease (when an antibody against the body’s own thyroids is produced), a toxic multinodular goiter (makes too much thyroid hormone), and thyroiditis (inflammation of the thyroid of unknown origin).
The most common symptoms are altered heart rate, feverish temperature, nervousness and sweating, dry skin and unexplained weight loss.
It can affect people of all ages, but particularly women from adolescence to menopause.
Hyperthyroidism is detected by finding thyroid hormones in the blood, as well as the pituitary hormones tasked with regulation of thyroid hormones.
Treatment is aimed at reducing the action of excess thyroid hormones. Drugs are used that antagonise the hormones, usually orally. Drugs are also prescribed to slow heart rate. In some cases, radioactive iodine is administered to partially deactivate the hormone-producing thyroid cells in a controlled manner.
The most common test is a blood test. Other additional tests include thyroid scintigraphy and thyroid ultrasound.
In order for the thyroid gland to function normally, moderate consumption of iodised salt is recommended, as iodine is an essential component of thyroid hormones.
Acute leukaemia involves abnormal cell growth in the haematopoietic system characterised by significant proliferation and accumulation of immature cells, firstly in the bone marrow and subsequently in the blood, with a great degree of clinical and biological heterogeneity. Acute leukaemias are clonal proliferations (tumour cells that originate from a single initial cell and accumulate various genetic mutations that result in development of the disease) of altered blood stem cells. In normal circumstances, multipotent stem cells give rise to haematopoietic cells, which give rise to blood cells via a process of cell proliferation and differentiation mediated by the cell’s own mechanisms and by the surrounding tissues. Under normal conditions, blood cells migrate to the blood and tissues and are indispensable for the body to function correctly.
In acute leukaemias, the accumulation of different genetic and molecular alterations gives rise to the progressive accumulation of these cells, which substitute normal blood cells in a process known as "hiatus leukemicus", whereby progenitor cells (blasts) do not mature and accumulate in the bone marrow and peripheral blood. The symptomatology may be very mild and non-specific initially, resulting mainly from the lack of blood cells and sometimes from tissue infiltration. These are very serious diseases that require chemotherapy treatment to control them and often a transplant of bone marrow progenitor cells.
In many cases there are at first no major symptoms. Any symptoms there are mainly derive from the lack of blood cells and include tiredness, bleeding, infections and on rare occasions lack of appetite, bone pain, breathing difficulty or neurological symptoms. A physical examination may reveal palpitations, bruises, bleeding from mucus membranes, fever, infiltration of gums or other organs (skin, spleen, liver, etc.).
The average age for acute leukaemia is generally 67 years, but it can affect people of any age. Acute leukaemia is the most common cause of abnormal cell growth in children, with lymphoid leukaemia being the most common. Myeloid leukaemia is more common in the adult population.
A suspected diagnosis is reached in a number of ways, including clinical history, physical examination and a blood test. The diagnosis is confirmed using bone marrow aspiration in which we study neoplastic cells (blasts) under a microscope, as well as conducting multiparametric flow cytometry, cytogenetic analysis and molecular biology tests.
Based on chemotherapy. New drugs are currently being developed, such as immunotherapy or treatment against specific biological alterations (personalised treatment). If not contraindicated, a transplant of haematopoietic progenitor cells may be required once the response has been reached. Therapeutic strategies are adapted on the one hand to the patient’s situation (age, concomitant diseases, etc.) and on the other hand to the biological characteristics of the disease.
Full blood test and bone marrow aspiration.
Unfortunately, there is no way of preventing acute leukaemia from developing. The mechanisms that lead to a person developing this disease are not exactly known. We do know some factors that may be related, such as chemotherapy or radiotherapy in the past or exposure to certain toxins. A predisposition in some congenital diseases has also been observed, as well as cases where there is a family history of the disease.
The most common form is chronic myeloid leukaemia and this sheet refers exclusively to this form of leukaemia. It is a form of abnormal cell growth (neoplasia) that originates in immature multipotent blood cells (stem cells) and gives rise to red blood cells, platelets and white blood cells.
It is characterised by cellular proliferation of white blood cells with cytogenetic alteration that consists of the appearance of an abnormal chromosome known as the Philadelphia chromosome. The Philadelphia chromosome is also seen in other processes, such as acute lymphoblastic leukaemia, and diagnostic differentiation is required to distinguish which process is occurring. Chronic myeloid leukaemia may also involve red blood cell and platelet disorders, and is characterised by its chronicity. This disease serves to illustrate the revolution that has taken place in the last few years with targeted therapies in abnormal blood cell growth.
These are not very specific: Usually marked by tiredness, anaemia, loss of appetite.
This disease has a low incidence (1-1.5/100,000 pop./yr) and low mortality (more than 90% survival in the last 5 years). It mostly affects middle-aged people (40-50 years), although it can occur at any age.
A physical examination often reveals spleen growth. Blood tests show a very significant increase in white blood cells and bone marrow aspiration should be conducted to confirm. Genetic and molecular biology tests are also conducted.
The treatment most used is tyrosine-kinase inhibitors. It is an oral, chronic and relatively well tolerated treatment, including Imatinib: it is the first drug that was described, and the most commonly used. Side effects include submalar skin pigmentation (aesthetic problems), nausea and vomiting, which are often mild.
As there is some resistance to this drug, new drugs need to be developed to stop the other proliferation pathways of the affected cells.
Physical examination, blood test, bone marrow aspiration.
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