Periodic syndrome associated with TNF receptors (TNF)
Last reviewed: 23.04.2024
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Family Irish fever (a periodic syndrome associated with receptors of tumor necrosis factor (TNF)) is a hereditary disease manifested by recurrent episodes of fever and migrating myalgia with painful erythema of the skin above it. The level of TNF receptor type I is low. Treatment is carried out by glucocorticosteroids and etanercept.
The recurrent syndrome associated with TNF receptors has been described in the family of immigrants from Ireland and Scotland, but there are also reports that it occurs in many other ethnic groups. The cause is the mutation of the gene encoding the TNF receptor. It is believed that the defects of this receptor lead to excessive unverified activation of the receptor with the development of inflammation due to this.
Attacks of this rare disease usually begin at the age of up to 20 years. They can last from 1-2 days to a week or more. The most vivid signs are muscle pains and swelling of the extremities. Other symptoms of the recurring syndrome associated with TNF receptors may include headache, abdominal pain, diarrhea or constipation, nausea, painful conjunctivitis, joint pain, rash and testicular pain. Male patients have a tendency to develop inguinal hernias. There are reports of development in a small number of families of kidney amyloidosis.
The diagnosis is based on anamnesis, examination and low level of the type I TNF receptor when measured in the interictal period. Nonspecific signs include neutrophilia, an increase in acute phase parameters, and polyclonal gammopathy during an attack. Patients should regularly monitor urinalysis for early detection of proteinuria.
Periodic syndrome associated with TNF receptors has a good prognosis, provided treatment is provided, but should be done more cautiously in the case of kidney amyloidosis. Attacks can be effectively treated with prednisolone in doses of at least 20 mg orally once a day. In the course of time, a dose increase may be required. The first results of the use of etanercept, binding and inactivating TNF, are promising. The recommended dose is 0.4 mg / kg sc, in children and 25 mg subcutaneously in adults, and the drug is administered twice a week.
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