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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.
Psiquiatría: Dr. J A Navarro Sanchis
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.
Borderline personality disorder (BPD) is a severe psychopathological disorder characterised by emotional instability, impulsive behaviour, difficulty in interpersonal relationships and identity problems. Appearing during adolescence, if left untreated it can have very negative effects on psychosocial development. To improve prognosis, early diagnosis and treatment are required.
Borderline personality disorder (BPD) is a disorder associated with neurodevelopment. It is thought to be the result of the interaction between biologically determined vulnerability and a series of stressful environmental circumstances that compromise an individual’s emotional maturation process. During adolescence, the person demonstrates a lower capacity to manage negative emotions than might be expected for their age and develops a pattern of interpersonal relationships characterised by instability and dependence. In this context, behaviours begin to manifest themselves that show little ability to adapt in order to control discomfort, such as self-harm or drug use, which have a negative effect on the way the person functions at different levels: family relationships, academic performance, affective life and social life. In addition, early manifestations of BPD tend to be associated with greater impulsiveness, meaning that the risk of suicidal behaviour is very high. Left untreated, the evolution of the disorder throughout life is associated with significant deficiencies at all levels and will require more complex therapeutic approaches compared to those that may be applied in adolescents or young adults.
The psychopathology of BPD can be placed into three clinical groups according to the diagnostic criteria of the disorder:
1. Emotional dysregulation, which includes affective instability, inappropriate anger and fear of abandonment.
2. Altered relationships, which include unstable relationships, change of identity, chronic feelings of emptiness and cognitive alterations related to stress.
3. Behavioural dysregulation, which includes self-harming and impulsive behaviour in at least two adaptive areas.
The prevalence of BPD in the general adult population is between 1.4% and 5.9%, making it the most diagnosed Personality Disorder (PD) at the different healthcare levels. Among adolescents, BPD has a prevalence of between 0.7 and 2.7%. Females are more frequently diagnosed with BPD. Males with BPD are often diagnosed with other disorders in error and thus there is not thought to be any real difference between the sexes.
Diagnosis is based on clinical criteria identified during a strict medical history conducted by specialists. It is important to identify the presence of dysfunctional personal traits from adolescence or early adulthood. It is advisable to supplement the medical history with structured interviews to explore the psychopathology of the BPD as well as the other PDs and psychopathological disorders of a similar clinical nature, to make a differential diagnosis and to be able to treat it properly.
The treatment of choice is psychotherapeutic. Psychopharmaceuticals, especially atypical antipsychotics, increase the efficacy of psychotherapy by facilitating patient control. There are psychotherapies specifically designed to treat BPD, such as dialectical behaviour therapy (DBT), mentalisation based treatment and transference focused psychotherapy. The aim of these therapies is to improve the capacity to manage negative emotions and interpersonal relationships.
Clinical history. Structured psychopathology interview. Neuropsychological examination. Blood test and urinalysis. Vital signs and anthropometric measurements.
Early identification and treatment of behaviours or disorders associated with a greater risk of developing BPD are important, such as self-harming or Attention Deficit Hyperactivity Disorder (ADHD). Strategies aimed at avoiding drug and alcohol consumption should be explored, as these are the main factors contributing to a poor prognosis in BPD. Adults with a long history of BPD should work towards preventing deterioration of psychosocial functioning.
Post-traumatic stress disorder is a clinical condition that can develop after an extremely traumatic experience (e.g. natural disasters, accidents or violence). It is marked by characteristic symptoms of reliving the experience, hypervigilance, avoiding stimuli related to the event and altered mood and cognition.
Although the majority of people exposed to a traumatic event recover in a reasonably short space of time and with few negative effects, some people may develop a variety of responses that make their recovery more difficult. Some of these responses are specific to traumatic stress, such as Acute Stress Reaction (ASR) and Post-Traumatic Stress Disorder (PTSD), in its various forms. In line with the Statistical Manual of Mental Disorders (DSM-5), there are currently four groups of symptoms defined for diagnosis, following a traumatic experience, requiring a duration of symptoms greater than one month and giving rise to clinically significant discomfort or a significant deterioration in the patient's functioning. It may be accompanied by dissociative symptoms (depersonalisation and/or derealisation) and presented with a delayed expression (if all criteria are not met until at least 6 months after the event). Although exposure to the traumatic event is the precipitating cause of its development, it is increasingly evident that biological and psychosocial risk factors can be predictors of the onset of symptoms, their severity and chronicity.
1. INTRUSIVE symptoms (1 or more): memories, nightmares, dissociative reactions, intense psychological and/or physiological discomfort when faced with things that evoke the trauma.
2. AVOIDANCE symptoms (of 1 or more stimuli related to the trauma): memories, people, places, etc.
3. HYPERAROUSAL and reactivity associated with the trauma (irritability, hypervigilance, concentration problems, exaggerated overwhelming response).
4. Negative cognitive and mood alterations.
PTSD has been identified in people all over the world who have suffered traumatic experiences. Its prevalence varies depending on the intensity and type of traumatic experience as well as several vulnerability factors (social, financial, cultural and biological).
Diagnosis is CLINICAL and an adequate assessment must be made by an expert healthcare professional. There are different scales to assess the severity of the symptoms and/or associated comorbid disorders (particularly disorders relating to anxiety, mood and substance abuse).
Based on the evidence, treatment should be multi-modal: Psychoeducation, specific psychological treatments (e.g. Trauma-Focused Cognitive Behavioural Therapy (TF-CBT), exposure therapy and Eye Movement Desensitisation and Reprocessing (EMDR) and pharmacological treatments (e.g. SSRIs, mainly sertraline and paroxetine)
Clinical history. Psychiatric and psychological interview, with the help of validated scales and questionnaires.
Screening in risk groups for early diagnosis and treatment.
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.
Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder, neurobiological in origin, that begins in infancy but can continue into adolescence and adulthood.
Patients with this disorder may have difficulty paying attention, can be hyperactive and restless and/or may act impulsively.
The symptoms of ADHD manifest themselves in different activities and areas, such as school, work or any other social environment.
1) Inattention: difficulty paying attention, misunderstandings, lack of organisation and planning, losing or forgetting things, easily distracted.
2) Hyperactivity: excess movement, difficulty relaxing or sitting down, feeling of being driven by an internal engine, very chatty.
3) Impulsiveness: quick responses, difficulty waiting, constant interruptions. People with ADHD also present emotional instability, low self-esteem, academic failure, employment and family instability.
In general terms, the prevalence of ADHD is around 3-7%. 50% of children will continue having clinical symptoms throughout adolescence and into adulthood.
ADHD is more frequent in males than females among the general population, with a ratio of 2:1 in children and 1.6:1 in adults. Females have a greater tendency to mainly show inattention.
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 attention difficulties and executive dysfunction.
ADHD needs to be tackled in various ways: Psychological education, psychological treatment and pharmacological treatment. In children, treatment includes educating parents and school intervention. There are several stimulant and non-stimulant drugs that have been proven to be effective and safe to control symptoms.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height.
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.
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.
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