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The immune system is a defense and adaptation system of our body in relation to the external environment. It allows us to distinguish what we accept and what we do not from everything around us—foods, germs, chemical substances, our own aged or damaged cells, etc.—in order to preserve good health. All disorders caused by either an excess or a deficiency of this function are included within these diseases.
It has two fundamental components: innate immunity, which depends on the genes of our species and does not need to be trained to function, and acquired immunity, which depends on the learning process of our body through contact with infections, foods, or chemical substances. Both work together in close collaboration and in a delicate balance.
Immune System Diseases
There are immune system disorders caused by:
a) Loss of function: Primary immunodeficiencies, acquired immunodeficiencies.
b) Excess of function: Autoimmune diseases, in which the body, through an excessive exercise of its defenses, attacks itself due to the loss of a fundamental function: self-tolerance. This means that under normal conditions, a body’s own cell will never attack another of its own cells.
In the first case, immunodeficiencies are indicated by the repeated occurrence of infections, which is the key sign for detection. These can appear early in life due to a genetic alteration, in adulthood as a result of treatments for other diseases such as cancer, or can be acquired through viral infections, with HIV (human immunodeficiency virus) being one of the most significant.
In the second case, autoimmune diseases are suggested by the appearance of inflammation without apparent cause in joints, lungs, kidneys, liver, or other organs.
Symptoms primarily depend on whether they are due to a loss of function (recurrent infections) or an excess of function (inflammatory disease affecting one or more organs).
Immune diseases can affect anyone throughout their life. In general, immunodeficiencies are more common in early childhood, while autoimmune diseases usually affect young adults, more frequently women.
The body’s defense capacity is assessed in two ways:
Basal state: in the patient’s ordinary condition.
After stimulation: the immune cells are stimulated in the laboratory to evaluate their function.
For autoimmune diseases, factors present in the blood are analyzed; elevated levels may indicate abnormal activity against the body itself.
Diagnostic evaluations include:a) Study of innate immunityb) Study of acquired immunityc) Study of the functional capacity of the immune systemd) Study of factors characterizing autoimmune disease
Assessing immune competence can be done in several ways:
Detection and counting of immune cells, specifically lymphocytes.
Laboratory stimulation of lymphocytes to test their functionality.
Analysis of blood or biopsy samples for factors causing self-attack, such as autoantibodies (defense proteins with abnormal self-aggressive function).
Study of elevated cellular messengers indicating the activity of these cells against the body.
Immunodeficiency: restoration of the immune system’s functional capacity.
Autoimmunity: modulation or inhibition of the immune system’s self-aggressive capacity.
Laboratory tests to assess immune system functionality are standard. Genetic tests are also used to assist in diagnosis.
In addition to general recommendations for a healthy diet, regular exercise, and abstaining from smoking, adherence to the childhood vaccination schedule is essential. Vaccinations not only protect against specific infections but also help improve overall immune defense.
Legionellosis is a disease caused by the bacterium Legionella pneumophila, which typically lives in contaminated water systems, such as water pipes, ponds, cooling towers, swimming pools, or hot tubs.
It is acquired through inhalation after contact with contaminated water, either by bathing in it or being in nearby areas, as the bacteria can spread from the water into the surrounding air.
It generally causes a lung infection in the form of pneumonia, which, if not diagnosed and treated promptly, can become severe and life-threatening.
Legionellosis produces the typical symptoms of pneumonia—fever, chest pain, and difficulty breathing—along with severe muscle pain and a significant overall decline in health, with pronounced malaise.
Legionellosis can affect anyone who comes into contact with the causative bacterium, but it is more common in elderly or immunocompromised individuals who have been exposed to contaminated water or inhaled vapor from such water.
Diagnosis is made by detecting the bacterium or antibodies against it in the blood, once suspected based on clinical characteristics (age of onset, fever, severe general malaise, muscle pain) or radiographic findings (pneumonia affecting large areas of the lungs). Isolation of the bacterium is relatively recent, as it requires special culture media.
In fact, Legionella was not identified as a cause of pulmonary disease until 1976, during a pneumonia outbreak at an American Legion convention in Philadelphia, from which it gets its name.
Legionellosis responds well to specific antibiotic treatment. Early initiation of treatment is very important.
Chest X-ray, blood tests for antibodies against Legionella, and specific cultures to identify the bacterium.
Epidemiological surveillance of detected cases (water pipes, air-conditioning towers, pools, or hot tubs involved) is crucial to disinfect them.
When a case of legionellosis is detected, public health authorities conduct an investigation to locate and eliminate the source.
Legionella does not tolerate high temperatures well and is usually eliminated by temporarily raising the temperature of the water systems. To ensure the bacterium is fully eradicated, these measures should be carried out by specialized professionals.
People who suffer from Fabry disease have a congenital deficiency or complete absence of alpha-galactosidase A. As a result, a fatty substance (glycolipid) that would normally be broken down by this enzyme accumulates in the lysosomes of the cells. The gene responsible for Fabry disease (GLA) is located on the X chromosome, so the disease is transmitted via the affected X chromosome from the father or mother.
When the father (XY) is affected, he transmits his single X chromosome to his daughters but not to his sons, who receive the Y chromosome from the father. When the mother (XX) is affected, having two X chromosomes and only one affected, she has a 50% chance of transmitting either the healthy or the altered X chromosome to both daughters and sons. Women, having two X chromosomes, can have the non-affected chromosome partially compensate for the affected one. Therefore, they may present various clinical forms, ranging from mild to severe, and generally with later onset than in men. Men with classic mutations of Fabry disease usually present severe forms, with onset even in childhood or adolescence.
Approximately 1,000 different variants of the affected GLA gene are known. This explains why Fabry disease can manifest in diverse forms depending on the type of mutation (classic forms or late-onset/atypical forms).
It is a multisystemic disease (affecting the kidney, heart, nervous system, skin, eyes, among others) that requires multidisciplinary care. Multiple specialists need to work together.
It generally affects men more severely than women. X-linked inheritance means there are almost twice as many affected women as men, but variability in expression causes many women to remain undiagnosed. Classic mutations start in childhood, and boys may present symptoms as early as 3–4 years old, depending on the mutation type.
Early diagnosis can be made through a blood test to determine enzymatic activity and genetic testing.
Depending on which organ is affected, Fabry disease may appear as different clinical problems. For kidney issues, the patient sees a nephrologist. Patients with arrhythmias may see a cardiologist. Pain may require a neurologist or rheumatologist, and skin lesions a dermatologist.
The disease usually begins with hand and foot pain, abdominal pain, fatigue, some skin lesions, and later kidney involvement in adolescence (albumin in the urine). It can also cause cardiomyopathy or left ventricular hypertrophy, detectable via echocardiography.
Symptoms appear progressively. Healthcare professionals must be aware of this possibility, detect it, and diagnose it in time.
Fabry disease can be treated symptomatically with medications for pain, proteinuria, or arrhythmias. Additionally, there are specific treatments.
Since 2001, enzyme replacement therapy (ERT) has been available. This therapy addresses the deficient enzyme production. Through genetic engineering, the enzyme can be produced in the lab and administered intravenously every 15 days. The protein enters the cell and acts for several days, but because the body does not produce it, supplementation must continue.
ERT reduces the occurrence of severe complications and improves survival by an average of 20 years. For optimal therapeutic benefit, treatment should start before irreversible tissue damage occurs.
Recently, another treatment alternative has emerged: pharmacological chaperone therapy. If the gene mutation produces no protein, this therapy cannot be used. If a defective protein is produced, the molecule binds to it, modifying its structure and improving its activity in genetically responsive variants (20–30%).
At Vall d’Hebron Research Institute, studies are underway to improve intracellular transport and drug efficacy using nanoparticles, which facilitate delivery of the enzyme precisely to the required site.
Another treatment in development is gene therapy, which involves introducing a normal gene into the cell via a vector so that the cell can produce the enzyme normally and permanently. If successful, this would be a curative treatment.
Expanded genetic testing helps study the family and detect affected individuals in early stages. Screening at-risk populations such as people with unexplained kidney disease, unexplained myocardial hypertrophy, early stroke, or sudden hearing loss is essential. Specialists in nephrology, cardiology, neurology, dermatology, ophthalmology, ENT, and other fields must consider Fabry disease, along with family history and clinical records, to detect it early and achieve optimal benefits.
Fibromyalgia is a condition that is part of the so-called central sensitization syndromes. There is a hyperexcitation of the central nervous system with a lowered pain threshold, which causes pain to appear earlier and become more intense, longer-lasting, and more widespread.
Generalized pain is often accompanied by other symptoms, such as fatigue or sleep disturbances. It is diagnosed based on criteria that rely on symptoms and physical examination. There is no specific medical test.
Fibromyalgia is a common condition, affecting 2.4 % of the general population, and is part of the so-called central sensitization syndromes. It is mainly characterized by widespread pain. There is hyperexcitation of the central nervous system with a lowered pain threshold, causing pain to appear earlier and be more intense, longer-lasting, and more diffuse. There is an exaggerated response to painful stimuli (hyperalgesia) and pain in response to normally non-painful stimuli (allodynia). Its cause is unknown, but sometimes there are clear triggers such as physical or emotional trauma or infections.
It is a chronic condition with a fluctuating course, with periods of improvement and others of clinical worsening.
The main symptom is widespread pain, but it is often accompanied by other symptoms such as fatigue, insomnia, tingling in the limbs, headache, dizziness, memory and concentration problems, anxiety, or depression.
It usually affects middle-aged women, with a peak between 40 and 49 years, but it can affect people of all sexes and ages.
Diagnosis is based on criteria that rely on the patient’s clinical presentation, according to the presence of characteristic symptoms and signs.
There is no specific medical test.
Laboratory tests and sometimes imaging studies help rule out other conditions that are often concomitant (present at the same time).
Treatment of fibromyalgia should be based on four pillars: patient education (general information about the disease and attitude toward it), physical exercise according to tolerance, cognitive-behavioral therapy if appropriate, and pharmacological treatment.
1. Patient education and attitude toward the disease
The disease should be explained, providing general advice to improve well-being.
2. Physical exercise according to tolerance
There is evidence of its effectiveness on pain, well-being, and physical function.
It is recommended to start with low-impact aerobic exercise: walking, swimming, stationary cycling, aquagym, tai chi, or pilates.
Exercise should be performed regularly and progressively.
It is recommended to do 20–50 minutes per session, at least three days per week.
In cases of lower tolerance, start with ten minutes per session, four to six days per week, and gradually increase duration, frequency, and intensity, if possible, each month.
3. Cognitive-behavioral therapy
Provided by clinical psychologists in cases of accompanying anxiety or depression.
Although fibromyalgia is not a psychological condition, anxiety and depression can trigger and perpetuate symptoms.
4. Pharmacological treatment
Can help manage some symptoms such as pain, fatigue, or sleep disturbances, although its effectiveness is limited in a large percentage of patients.
Currently, analgesics, muscle relaxants, anticonvulsants, and some groups of antidepressants are used.
The risk/benefit and potential side effects of any medications should be carefully evaluated.
A healthy lifestyle is recommended, maintaining weight with aerobic exercise according to tolerance and a balanced diet, organizing and prioritizing daily tasks with short breaks, and avoiding physically and emotionally stressful activities.
Health advice for people with fibromyalgia is provided.
Treatment with the drug levodopa allows many of the functions deteriorated or lost due to the disease to be restored. It is the most effective treatment, but it also has limitations: as the disease progresses, its effect becomes transient and fluctuates. When the medication is working, the patient feels well, in the "On" state. When the effect wears off, the patient enters the "Off" state, and symptoms reappear.
To improve the effects of levodopa, different routes of administration have been investigated (inhaled, transdermal, intrajejunal) and various pharmaceutical formulations have been developed. Administration via gastrostomy with a levodopa gel infusion has been particularly successful.
There are also other pharmacological and neurosurgical treatments, such as electrical stimulation of specific brain areas, which provide good results. Research is ongoing to target the diseased brain using stereotactic ultrasound, avoiding trepanation and traditional surgery.
New avenues of research have opened in Parkinson’s disease to determine its causes, prevent its progression, and maximize symptom management.
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