TNF receptor associated periodic syndrome

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TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant genetic disorder characterized by recurrent episodes of fever, abdominal pain, myalgia, and skin rash. The syndrome is caused by mutations in the TNFRSF1A gene, which encodes the tumor necrosis factor receptor 1 (TNFR1).

Pronunciation

The pronunciation of TNF Receptor Associated Periodic Syndrome is /ˈtiːɛnˈɛf riːˈsɛptər əˈsoʊʃieɪtɪd pɪˈriɒdɪk ˈsɪndroʊm/.

Etymology

The term "TNF Receptor Associated Periodic Syndrome" is derived from the gene involved in the disorder (TNFRSF1A), which encodes the tumor necrosis factor receptor, and the periodic nature of the symptoms.

Symptoms

The symptoms of TRAPS are periodic, meaning they come and go. They include:

Causes

TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein that is involved in the body's immune response. Mutations in the TNFRSF1A gene lead to the production of a faulty protein that cannot control inflammation properly, leading to the symptoms of TRAPS.

Diagnosis

Diagnosis of TRAPS is based on the presence of characteristic symptoms, a family history of the disorder, and genetic testing to identify mutations in the TNFRSF1A gene.

Treatment

Treatment for TRAPS typically involves medications to control inflammation and relieve symptoms. These may include corticosteroids, nonsteroidal anti-inflammatory drugs (NSAIDs), and biologic drugs that target specific parts of the immune system.

See also

External links

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