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Familial Mediterranean fever in a fraternal twin: a laboratory evaluation
1Department of Pathology and Laboratory Medicine, Evanston Hospital, IL 60201.
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive disease of unknown etiology and has no known diagnostic markers. Periodic attacks of pain and fever can be precipitated by dietary fat or dairy products and by the same factors that are known to elevate serum free fatty acids (FFA). Several tests related to lipid metabolism were made on the serum and urine of a fraternal twin with FMF during attacks and remission. The results were compared with those of the unaffected, asymptomatic twin and healthy adults. Low density lipoprotein-cholesterol was elevated in both twins. Gas chromatography revealed many urinary FFA during attacks and fewer during remission. Urinary organic acids determined by gas chromatography/mass spectrometry (GC/MS) revealed slight elevations of glycollic, oxalic, and methylmalonic acids during an attack. Serum gamma-glutamyl transferase (GGT) levels were at or below the low limits of normal for both twins. Hematological studies revealed low values for erythrocyte parameters for the affected twin. Both twins had low serum iron and an increased iron binding capacity. These findings may represent a defect in fatty acid metabolism which is being compensated by alternate pathways which may generate oxidants. Both FFA and oxidants are injurious to cell membranes and may be the cause of the polyserositis which occurs during an attack.
Insights
Familial Mediterranean fever (FMF) involves altered lipid metabolism, with elevated free fatty acids (FFA) during attacks. This suggests a potential defect in fatty acid metabolism contributing to FMF symptoms.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Familial Mediterranean fever (FMF) is an autosomal recessive disease with unknown causes and no diagnostic markers.
- FMF attacks, characterized by pain and fever, can be triggered by dietary factors that increase serum free fatty acids (FFA).
Purpose of the Study:
- To investigate potential defects in lipid metabolism in a patient with FMF.
- To compare metabolic profiles during FMF attacks and remission with an unaffected twin and healthy controls.
Main Methods:
- Analysis of serum and urine for lipid metabolism markers, including free fatty acids (FFA) and organic acids.
- Gas chromatography and gas chromatography/mass spectrometry (GC/MS) were employed for detailed metabolic profiling.
- Hematological studies and assessment of serum iron and iron-binding capacity were performed.
Main Results:
- Elevated low-density lipoprotein-cholesterol was observed in both FMF and unaffected twins.
- Increased urinary free fatty acids (FFA) during FMF attacks, with decreased levels during remission.
- Slight elevations in specific urinary organic acids (glycollic, oxalic, methylmalonic) during attacks.
Conclusions:
- Findings suggest a potential defect in fatty acid metabolism in FMF, possibly compensated by alternative pathways generating oxidants.
- Elevated FFA and oxidants may contribute to cellular damage and polyserositis observed during FMF attacks.
- Further research into fatty acid metabolism could reveal novel diagnostic markers and therapeutic targets for FMF.