Periodic Disease

What is a Periodic Disease?

Periodic disease (familial Mediterranean fever, benign familial paroxysmal peritonitis, Armenian disease, etc.) is a hereditary disease of an autosomal recessive type with complete gene penetrance. The disease is described mainly in the inhabitants of the Mediterranean basin – Arabs, Turks, Jews, Armenians, but it also occurs in other parts of the world, in particular, people of Caucasian nationalities. Both men and women get sick; family cases of the disease are noted.

Symptoms of Periodic Disease

The basis of the clinical manifestations of a periodic disease is benign aseptic inflammation of the serous membranes. It is believed that the pathological process is due to a congenital metabolic defect, but the factors that provoke inflammation and the pathogenesis of acute attacks have not been established. Apparently, neutrophilic leukocytes play a large role in the development of an attack. L.N. Kochubey et al. in the pre-entry and onset periods of the disease, severe degranulation of neutrophilic leukocytes, the classical initiators of aseptic inflammation, was revealed. The degranulation process is accompanied by the release of intracellular inflammatory mediators, such as a factor, immobilizing neutrophils, a complement activating substance, a chemotactic factor, etc.

The process usually begins in early childhood and adolescence and is manifested by periodic bouts of acute abdominal pain simulating peritonitis, or chest pain, fever (up to 39-40 ° C), arthralgia or arthritis, in some cases, the early development of amyloidosis, especially on HLA A28 carriers. Crisis lasts 1-2 days, rarely more and can cause erroneous surgical interventions, in particular lzprzotomii, with kshira usually only serous effusion is found.

Joint syndrome is characterized by a mismatch between severe pain and limited movement in the joints and relatively weak signs of inflammation – swelling, hyperthermia, lack of hyperemia. The joints are affected asymmetrically, often there are mono or oligoarthritis of the knee, ankle, hip, shoulder, elbow joints, small joints of the hands, occasionally temporomandibular and ileosacral joints. Joint attacks last a little longer than other manifestations of the disease – 4-7 days and only occasionally a longer period. The reverse development is complete, excluding the defeat of the hip joints, in which stiffness may remain.

During an acute attack, leukocytosis, an increase in ESR, and the content of fibrinogen in the blood are detected. Urine is usually unchanged, excluding amyloidosis. RF is not detected. Radiologically, as the duration of the disease increases, monetary changes in the joints are detected.

Periodic Disease Treatment

Non-steroidal anti-inflammatory drugs are recommended during acute attacks, physiotherapy. Corticosteroids are ineffective.

To reduce the number of repeated attacks, colchicine is prescribed for a long time in small doses (0.6 mg 2-3 times a day), which prevents the degranulation of neutrophilic leukocytes, which plays a role in the pathogenesis of acute attacks. Sometimes attacks completely disappear. However, positive results are not always achieved and, in addition, treatment is difficult due to the toxic effect of the drug.