TNF receptor associated periodic syndrome
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:
- Fever
- Abdominal pain
- Myalgia (muscle pain)
- Skin rash
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
- Medical encyclopedia article on TNF receptor associated periodic syndrome
- Wikipedia's article - TNF receptor associated periodic syndrome
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