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Autoinflammatory syndromes are a group of conditions characterised by spontaneous, recurring or persistent episodes of multi-systemic inflammation. They are caused by changes to innate immunity that cause deregulation of the immune system. Autoinflammatory conditions, due to various genetic mutations, cause a pathological hyperactivity in this structure, which unleashes abnormal, continuous inflammatory activity. The number of conditions the group includes has increased since then, due to the advances in genetics and immunology.
The main symptom of many of the conditions included in the group is repeated episodes of fever, which spontaneously disappear after a few days, only to reappear again cyclically after a variable period of time. This fever is not caused by an infection and, therefore, does not respond to treatment with antibiotics or antiviral medication. Depending on the genetic defect, these conditions may be associated with a wide diversity of other manifestations, including skin, abdominal, joints, eyes or lungs.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The majority appear in infancy or adolescence.
Recent progress with research has clearly shown that some fevers where the cause is not found are provoked by a genetic defect.
Depending on whether or not they have a genetic cause, they can be classified as follows:
The diagnosis is based on the clinical features of each patient’s clinical picture. Blood tests are important in diagnosing the various autoinflammatory conditions, as they enable detection of the existence of inflammation. These analyses are repeated when the child is asymptomatic to see if they have normalised. Molecular or genetic analysis enables detection of the presence of mutations involved in the development of autoinflammatory conditions which are studied in patients suspected of suffering from them according to the features of the clinical picture. The diagnosis is confirmed when the patient shows evidence of being a mutation carrier and it is often necessary to study family members too.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. For example, for familial Mediterranean fever, the treatment of choice is colchicine. Other treatments used on the various autoinflammatory conditions are cytokine inhibitors, such as IL-1 or the tumour necrosis factor α. Close monitoring of the patient is essential to prevent complications arising in the long term.
Informació pràctica com a CSUR de malalties autoinflamatòries
Osteoporosis, which means "porous bone", is a skeletal disease in which the density and quality of the bone decrease. Due to this, the skeleton offers less resistance and is more likely to fracture, even with minor trauma like a fall from standing height or a light blow. These are called fragility or osteoporotic fractures. It is very prevalent. Worldwide, it is estimated that 1 out of every 3 women and 1 out of every 5 men will suffer an osteoporotic fracture during their lifetime.
This is a silent disease, because it shows no symptoms until the first fracture. Having suffered a first fracture makes the patient more likely to have subsequent fractures. These almost always occur in the spine, wrist, or hip, but they can happen in other places. Fractures of the spinal column are especially detrimental, because they can cause pain, deformity, and a loss of height. This is also true of hip fractures, which require hospital admission and entail a loss of quality of life and autonomy as well as a high socioeconomic cost.
The skeleton is a living tissue that is in a constant process of destroying old bone and forming new bone. With age, this destruction gradually outpaces the formation of new bone. It especially affects women after menopause, since during menopause this destructive process becomes faster due to the loss of the protective effect of oestrogens. This predisposes them to what is called postmenopausal osteoporosis. In addition, this is aggravated by the fact that women, in their youth, reach a lower peak bone mass than men do. Early menopause (before 45 years of age) is a risk factor. In men, bone loss generally only becomes important around the age of 70.
Thus, age has an influence on the loss of bone mass, but it can also affect children, teens, and premenopausal women. There are many other risk factors for osteoporosis, like having a family history, taking certain pharmaceuticals (corticosteroids, drugs used for prostate and breast cancer, etc.), tobacco use, excessive alcohol, being sedentary, and certain pathologies, such as rheumatic inflammatory diseases, endocrine diseases, liver diseases, blood diseases, kidney diseases, intestinal malabsorption problems, and inadequate calcium intake, among others.
The diagnosis must be made considering the risk factors that may trigger osteoporosis, which health professionals must evaluate.
A blood analysis must be carried out to detect possible abnormalities, as well as a DEXA (dual energy x-ray absorptiometry), which uses small doses of radiation. The hip and spinal column are evaluated. In general, the reference measurement comes from the bone density in a population of young adults (called the T-score). Thus, the WHO has established that osteoporosis should be diagnosed when the T-score for a person is under -2.5 SD. Osteopaenia means that the loss of bone mass cannot yet be called osteoporosis, and this is when the T-score is between -1 and -2.5 SD.
If the DEXA shows osteoporosis as a result, this doesn't mean that there necessarily has to be a fracture. Other risk factors must be evaluated and the overall clinical picture determined. Osteopaenia is very frequent and when treatment is initiated will depend on whether there are important risk factors and/or if there have been fractures. We have tools to calculate fracture risk that take into account all of the characteristics of each patient.
The objective is to avoid the loss of bone mass and reduce the risk of fractures. Having a healthy lifestyle is essential.
Pharmacological treatment:
There are various types of pharmaceuticals and the prescription will depend on the profile and individual risk of each patient, depending both on the location of the fracture and other medical conditions. The duration of treatment is also variable.
We currently have a large selection of pharmaceuticals that have been proven safe and effective to reduce the risk of fracture in patients with osteoporosis. Most have an "anti-resorptive" effect, because they stop the loss of bone mass, and are also an anabolic treatment, since they stimulate the formation of bone.
Arthrosis is a degenerative process characterised by lesions of the cartilage in joints. A joint is the area where a bone connects with another bone, allowing movement. Cartilage is a tissue that covers the joints, acts as a shock absorber for impacts, and also allows the joints to move without friction. Normally, this condition appears in the spinal column, neck, hip, knees, and hands.
Symptoms
The most common manifestation is pain that improves with rest, stiffness when initiating movement, deformities, and difficulty moving the affected joints. There can be a certain degree of inflammation, which will cause swelling due to the excessive accumulation of liquid in the joint.
However, it must be differentiated from arthritis, which is a rheumatic inflammatory disease rooted in joint inflammation that can cause pain which does not improve with rest. Arthrosis is often also called osteoarthritis, which can create some confusion.
Prevalence
This disease is very prevalent and has a high social and health impact. The EPISER2016 study, by the Spanish Society of Rheumatology, showed that the prevalence in the population over 40 years of age is 29%.
Causes
Age is the main risk factor. It is more frequent in women. A deterioration of the cartilage is clearly associated with obesity and a lack of regular physical exercise. A misaligned joint or poor posture can also be predisposing factors. Sometimes the cause is a traumatic injury or previous disorder of the affected joint. It has a genetic component (especially arthrosis of the hands).
Diagnosis
A diagnosis is obtained by looking at the symptoms, physical examination, and the imaging tests.
Treatment
Treatment for this disease is aimed at improving symptoms and quality of life for patients while slowing down its clinical evolution. A treatment plan must be individually prepared for each patient and type of joint.
Non-pharmaceutical treatment is essential. We recommend:
Pharmacological treatment normally consists of conventional pain relievers such as paracetamol, which is the analgesic treatment of choice. There are slow-acting treatments, such as chondroitin sulphate (taken orally) or hyaluronic acid (given as an injection), which can improve pain, especially in arthrosis of the knees. Surgery (joint replacement) is reserved for cases in which the joint is destroyed and other measures have failed.
In this disease, which has no symptoms, the most important thing is the prevention of its most dreaded complication, fractures. Both treatment and prevention must be supervised by a primary care doctor or specialist.
To prevent osteoporosis and the risk of fracture, a diet rich in calcium, magnesium, and vitamin D, found in legumes, avocados, and nuts, is recommended.
If you don't get enough calcium in your diet, taking supplements may be necessary. The National Osteoporosis Foundation recommends a daily calcium intake of 1000 mg for most adults and 1200 mg for women over 50 and men over 70.
This vitamin is important to help the body absorb calcium from the foods we eat. The recommended daily dose is between 400 and 800 international units (IUs) for adults under 50, and 800 to 1000 IUs for those over 50. These are the current guidelines from the National Osteoporosis Foundation. You may need a different dose, depending on the levels of vitamin D in your blood, sometimes up to 50,000 units per week for 12 weeks.
There are also medications containing antiresorptive or bone-forming agents, such as bisphosphonates, parathyroid hormone (PTH), monoclonal antibodies, and others, which can be prescribed by a doctor based on a patient's comorbidities (what other disorders or diseases they have) and preferences.
Doing a moderate physical activity with some impact is recommended, such as jumping, walking, or dancing, along with other activities like yoga and tai chi, which have additional benefits when it comes to preventing falls and fractures.
Exercise slows muscular atrophy, improves joint mobility, directly promotes bone formation, and improves neuromuscular coordination.
The locomotor system, also known as the musculoskeletal system, consists of a person’s bones, muscles, joints, tendons and ligaments. It is a highly structured system whose purpose is to move and support the rest of the body's structures. Rheumatology deals with disorders and diseases of the musculoskeletal system and connective tissue. It is a very wide-reaching speciality that covers almost 200 diseases.
The Vall d’Hebron University Hospital's Rheumatology Service is an adult and paediatric care service for patients with rheumatic illnesses. It serves a reference population of 450,000 inhabitants and 18 primary care centres in the AIS Nord area. We work in the hospital environment and in primary care, and outpatient activity is clearly predominant.
Guia o itenerari formatiu (GUIF) - CAS - Reumatologia
Rheumatology, Traumatology, Rehabilitation and Burns Hospital
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