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[Hereditary intermittant fever]
Gilles Grateau1, Brigitte Granel, Véronique Hentgen
1Service de médecine interne, Hôtel-Dieu, Assistance publique-Hôpitaux de Paris. gilles.grateau@htd.ap-hop-paris.fr
Unlabelled:
Other than familial mediterranean fever: Four hereditary diseases presenting in the form of intermittent inflammatory flares are now recognized and have been characterised clinically and genetically. At the head of this group is Familial Mediterranean Fever (FMF), which affects thousands of patients originating from the Mediterranean area. However the familial Mediterranean Fever is no longer the only recurrent hereditary inflammatory disease. Three other entities have now been clearly defined: intermittent fever secondary to mutations in the type 1A Tumour Necrosis Factor receptor (TNF), of dominant autosomic genetic transmission, the hyperimmunoglobulinemia D syndrome and an entity regrouping the Muckle Wells syndrome, familial cold-induced urticaria, and the Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome.
In Practice:
Because they require specific management and treatment, precise diagnosis of these entities is crucial.
Insights
Familial Mediterranean Fever (FMF) is not the only hereditary inflammatory disease. Four distinct conditions now exist, requiring precise diagnosis for effective management and treatment.
Area of Science:
- Genetics and immunology of autoinflammatory diseases.
Context:
- Familial Mediterranean Fever (FMF) is a well-known hereditary inflammatory disease.
- Advances in genetic and clinical characterization have identified other related conditions.
Purpose:
- To delineate hereditary inflammatory diseases beyond FMF.
- To highlight the importance of accurate diagnosis for these conditions.
Summary:
- Four hereditary diseases characterized by intermittent inflammatory flares are now recognized.
- These include FMF, TNF receptor-associated periodic syndrome, hyperimmunoglobulinemia D syndrome, and the TRAPS-CINCA spectrum (including Muckle Wells syndrome and familial cold urticaria).
Impact:
- Precise diagnosis is crucial for targeted management and treatment strategies.
- Improved understanding aids in differentiating these distinct autoinflammatory disorders.
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