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Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis
M A Gertz1, R M Petitt, J Perrault
1Division of Hematology, Mayo Clinic, Rochester, MN 55905.
Abstract:
We report a pedigree in which a syndrome that resembled familial Mediterranean fever occurred in four family members over three successive generations. All four patients had systemic amyloidosis. Typically, patients with familial Mediterranean fever show an autosomal recessive inheritance pattern. The disorder commonly afflicts Sephardic Jews, Arabs, and persons of Turkish descent. Colchicine therapy dramatically reduces the attack rate of serositis. The family described herein is unique because of their European ethnicity and the autosomal dominant inheritance pattern. Unlike typical familial Mediterranean fever, colchicine had no influence on the attacks and did not prevent amyloidosis in the three patients who received this treatment.
Insights
This study describes a unique European family with a familial Mediterranean fever-like syndrome inherited in an autosomal dominant pattern. Unlike typical cases, colchicine treatment was ineffective in preventing attacks or amyloidosis.
Area of Science:
- Genetics
- Internal Medicine
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) typically presents with autosomal recessive inheritance.
- FMF commonly affects specific ethnic groups like Sephardic Jews, Arabs, and Turks.
- Colchicine is the standard treatment, effectively reducing serositis attacks in FMF.
Observation:
- A unique pedigree exhibited a syndrome resembling FMF across three generations.
- Four family members presented with systemic amyloidosis.
- The affected family was of European ethnicity.
Findings:
- The syndrome demonstrated an autosomal dominant inheritance pattern, distinct from typical FMF.
- Colchicine therapy showed no effect on disease attacks in these patients.
- Colchicine failed to prevent the development of amyloidosis in treated individuals.
Implications:
- This case challenges the established inheritance patterns and treatment responses for FMF-like syndromes.
- Highlights the importance of considering genetic variations in rare disease presentation.
- Suggests potential alternative therapeutic targets for dominant forms of hereditary periodic fever syndromes and associated amyloidosis.