[Hereditary periodic fever]

Area of Science:

• Genetics
• Immunology
• Molecular Biology

Background:

• Familial Mediterranean fever (FMF), hyperimmunoglobulinemia D periodic fever syndrome (HIDS), and tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are rare hereditary autoinflammatory disorders.
• These syndromes are characterized by recurrent episodes of systemic inflammation, including fever, serositis, arthralgia, and rash.
• Genetic mutations in MEFV (FMF), MVK (HIDS), and TNFRSF1A (TRAPS) genes lead to impaired protein function and dysregulated cytokine balance.

Purpose of the Study:

• To review the genetic basis, clinical manifestations, diagnostic approaches, and therapeutic strategies for FMF, HIDS, and TRAPS.
• To highlight the underlying molecular mechanisms involving pyrin, mevalonate kinase, and TNF-receptor 1A.
• To provide an overview of current treatment options for these periodic fever syndromes.

Main Methods:

• Literature review of hereditary periodic fever syndromes.
• Analysis of genetic mutations associated with FMF, HIDS, and TRAPS.
• Summary of clinical presentations and diagnostic criteria.
• Overview of therapeutic interventions including colchicine and etanercept.

Main Results:

• FMF is linked to MEFV gene mutations, HIDS to MVK gene mutations, and TRAPS to TNFRSF1A gene mutations.
• Clinical features include recurrent fever, serositis, arthralgia, myalgia, and rash.
• Diagnosis relies on molecular genetic analysis of the causative genes.
• Treatment strategies vary, with colchicine effective for FMF, symptomatic treatment for HIDS, and etanercept for TRAPS.

Conclusions:

• FMF, HIDS, and TRAPS are distinct genetic periodic fever syndromes with shared inflammatory phenotypes.
• Accurate genetic diagnosis is crucial for appropriate management.
• Targeted therapies, such as colchicine for FMF and etanercept for TRAPS, can effectively manage disease activity.