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Rheumatology, Traumatology, Rehabilitation and Burns Hospital
Accident and Emergency Department, General Hospital
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.
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