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Published on: September 13, 2024
[Hereditary recurrent fever syndromes]
1Médecine Interne, Hôpital Tenon, 4, rue de la Chine, 75970 PARIS Cedex 20.
Abstract:
Four diseases presenting mainly as intermittent bouts of inflammatory symptoms have been clinically and genetically characterized. At the head of this group is familial Mediterranean fever, which affects thousands of patients of Mediterranean ancestry. The other three entities are the tumor necrosis factor receptor superfamily 1A-associated periodic fever syndrome (TRAPS) with a dominant mode of inheritance; hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); and the most recently recognized entity, which includes Muckle Wells syndrome, familial cold urticaria, and the chronic infantile neurological cutaneous and articular (CINCA) syndrome. Proper diagnosis of these entities is needed to begin specific clinical and therapeutic management.
Insights
Familial Mediterranean fever and related periodic fever syndromes are inflammatory diseases. Accurate diagnosis is crucial for effective clinical and therapeutic management of these genetic conditions.
Area of Science:
- Genetics and immunology of autoinflammatory diseases.
Context:
- Periodic fever syndromes are a group of rare genetic disorders characterized by recurrent inflammatory episodes.
- Familial Mediterranean Fever (FMF) is the most prevalent, affecting individuals of Mediterranean descent.
Purpose:
- To clinically and genetically characterize four distinct periodic fever syndromes.
- To highlight the importance of accurate diagnosis for initiating specific management.
Summary:
- This work details four periodic fever syndromes: Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor Superfamily 1A-Associated Periodic Fever Syndrome (TRAPS), Hyperimmunoglobulinemia D and Periodic Fever Syndrome (HIDS), and a novel entity encompassing Muckle Wells syndrome, familial cold urticaria, and Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome.
- These conditions share a presentation of intermittent inflammatory symptoms.
Impact:
- Facilitates precise diagnosis, enabling targeted clinical and therapeutic interventions.
- Improves patient outcomes through timely and appropriate management strategies for rare autoinflammatory diseases.
