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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.
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.
Infective endocarditis is the presence of a microbial infection on the endocardial surface (the inner surface of the heart). It is the most common cardiovascular infection and is highly significant due to its potential severity and the fact that it can present in different clinical forms.
Infective endocarditis primarily affects the heart valves, whether natural or artificial, although it can sometimes involve other structures of the heart. It is classified according to the duration of the infection (days, weeks, or months) and the type of causative microorganism (bacteria, yeast, or fungi).
The characteristic lesion of infective endocarditis is the endocardial vegetation. This consists of an abnormal aggregate of platelets, fibrin, bacteria, and inflammatory cells that adheres to the inner surface of the heart—typically a heart valve—and can detach, causing infectious emboli in distant organs such as the skin, nervous system, or extremities.
It is considered a serious disease. Although most cases are curable, it carries significant complications and mortality even with treatment. In many cases, achieving a definitive cure requires surgical intervention to remove affected tissue and replace the valve with an artificial one.
In the acute form, infective endocarditis may cause high fever, chills, prostration, and rapid deterioration of general condition over hours or days.
In subacute forms, with progression over weeks or months, the main symptoms are fatigue, loss of appetite, and mild fever. In these cases, characteristic skin lesions, such as nodules or spots, may also occur, although not always.
In patients with severe valve involvement, valvular dysfunction may develop, resulting in heart failure symptoms, such as significant shortness of breath and edema in the lower limbs.
Infective endocarditis has a global incidence of 2–3 cases per 100,000 people per year. In Catalonia, around 200 new cases are diagnosed annually. Its incidence increases significantly with age, reaching 15–30 cases per 100,000 people per year in individuals over 65—about 10 times higher than in younger populations.
The causative agents have changed over recent decades. Previously, streptococci, particularly viridans streptococci, were the most common. Currently, the most frequent pathogens are staphylococci, followed by streptococci and enterococci. However, any microorganism present in the blood can adhere to a heart valve, especially if it is previously damaged or artificial.
Diagnosis is primarily based on:
-blood cultures: to identify the causative microorganism and guide selection of the appropriate antibiotic therapy.
-echocardiography: to locate endocardial vegetations, assess valve function, and determine the need for surgery in certain patients.
In some cases, additional imaging (CT scans, nuclear medicine scans) is necessary to detect peripheral emboli, which are common at diagnosis or during treatment.
Treatment of infective endocarditis is antibiotic therapy, specifically targeted at the causative microorganism. Doses are high and prolonged, because vegetations are poorly vascularized and the antibiotic must penetrate by diffusion from circulating blood.
Patients who do not respond adequately to antibiotic therapy, or who develop significant valvular damage, may require valve replacement surgery.
Blood cultures and echocardiography, both at diagnosis and during follow-up, to monitor disease progression.
In individuals with known valvular abnormalities, antibiotic prophylaxis is recommended before dental procedures or gum surgery, following specialist guidance.
Preventive measures should also be taken during endoscopic procedures, especially upper gastrointestinal endoscopy (gastroscopy), according to the prescribed antibiotic regimen.
This prevention is crucial because the presence of bacteria in the bloodstream during such procedures significantly increases the risk of infective endocarditis.
Internal Medicine, General Hospital
Hip fractures involve a change in the autonomy of elderly patients, negatively affecting their quality of life and altering their family and social environment, as it causes a change in their prior functional capacities, with a high risk of complications.
The femur is the longest bone in the human body. It should be stated that a femoral fracture in elderly people basically affects the end nearest the hip joint. For this reason, the best-known name for this type of fracture is hip fracture. We should not understand this health problem as a fracture of a long bone that affects an elderly person, but rather as a gateway leading to their physiological and functional situation, and their underlying conditions, becoming decompensated.
The classic symptoms are pain in the hip area, reported by the patient themselves, when they can, along with the associated functional impotence. Furthermore, the affected limb tends to be shorter and presents external rotation (with the lateral side of the foot touching the bed). In patients with cognitive deterioration, who cannot communicate the level of pain they are suffering, a decrease in their functional situation can be a symptom that should make us suspect a “hidden” fracture.
The population incidence of hip fractures in Catalonia for patients aged > 65 is around 600 cases / 100,000 inhabitants per year. The perspective is that this figure will increase in coming years, due to the increase in life expectancy and an increasing population.
At Hospital Vall d'Hebron in 2020, the year of the Covid-19 pandemic, we operated on a total of 693 hip fractures. In 2019, surgery was performed on 720 fractures. In other words, these are fractures that occur under normal circumstances of patients falling over.
The average age where this occurs is 85 years old, and it affects women in 75% of the cases. Some of the risk factors for women may be early menopause and hormonal treatment. A prior fracture (radius or spine are the most frequent), obesity, smoking and a sedentary lifestyle are risk factors in general.
The suspected diagnosis can be made from typical clinical signs and symptoms, as stated above.
In regard to treatment, it has been demonstrated that surgery on hip fractures in the elderly population increases survival, when compared to a non-surgical treatment, as it permits the patient's early movement without pain, thereby avoiding added complications. For this reason, at present, the treatment of choice is surgical treatment. However, there are some exceptions.
A multi-disciplinary approach is important, with the collaboration of specialists in geriatrics, internal medicine and anaesthesiology for the preoperative optimisation of the patient and early surgery, as a rule within the first 48 hours.
It is essential to classify the fractures according to their location, in order to decide on the type of surgical treatment. Intracapsular fractures seriously affect the vascularisation of the femoral head, and for this reason, the most popular option for treatment is to replace it with an artificial head, in the form of a hip prosthesis, especially in displaced fractures. Depending on the patient's age and functional situation, we may opt for a partial or total prosthesis, reserving the second option for younger patients with a better quality of life. Some non-displaced intracapsular fractures can be treated percutaneously, using screws. Extracapsular fractures, of which pertrochanteric fractures are the most common, do not compromise the vascularisation of the femoral head, and for this reason it is not necessary to replace it with a prosthesis. Percutaneous treatment with intramedullary nailing is usually the treatment of choice.
The postoperative period is also very important. Close collaboration with rehabilitation and physiotherapy services is established so that patients do not lose their prior functional capacity. Furthermore, social workers assess the social situation of each patient, in order to ensure an appropriate hospital discharge.
Diagnosis confirmation is usually carried out with a simple x-ray of the pelvis. In cases where the x-ray does not show a fracture, as may occur in the case of some non-displaced intracapsular fractures, tomography (CAT) is usually the technique of choice.
Hip fracture prevention is based on the adoption of healthy habits, such as a balanced diet that is rich in calcium and vitamin D, doing physical activity every day, within the person's functional capacities, and avoiding tobacco and alcohol.
It is also important to prevent falls, by means of appropriate closed footwear with a non-slip sole, standing up slowly, without haste, programming visits to the toilet to avoid rushing, wearing glasses and hearing aids, not walking in the dark or on went floors, etc.
The failure of our immune system to recognise structures, cells or proteins in the body is responsible for the development of systemic autoimmune diseases. We call them ‘autoimmune’ because our immune response mistakenly targets our own body; and ‘systemic’ because they affect different organs and systems such as the lung, kidney or nervous system, in addition to the well-known effects on the musculoskeletal system.
In recent years, improved knowledge of these diseases has made it possible to correctly diagnose autoimmune diseases at an early stage, allowing us to establish appropriate treatment regimens to reduce the damage that they cause.
The primary therapeutic strategy for tackling these diseases revolves around the modulation of the immune system. Various immunosuppressants and the use of molecules targeting key components of the immune system can restore, to some extent, or at least minimise the abnormal immune response associated with these disorders. The considered use of these treatments will make it possible to deliver personalised, precision therapy to patients suffering from these diseases in the near future.
Vasculitis in its different forms (depending on the calibre of the vessels), lupus, antiphospholipid syndrome, scleroderma and inflammatory myopathies are some of the classic systemic autoimmune diseases.
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