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End-stage renal disease associated with familial Mediterranean fever
Nozomi Tomiyama1, Saori Oshiro, Yasushi Higashiuesato
1Third Department of Internal Medicine, University of The Ryukyus, Okinawa.
Abstract:
A 39-year-old man had been suffering from periodic fever since childhood. He was started on hemodialysis due to secondary amyloidosis on December 2000. The patient was believed to have Familial Mediterranean fever (FMF) because of recurrent fever with peritonitis, arthritis and inflammatory changes and secondary amyloidosis in his kidneys, heart and colon. No other family member had recurrent fever. IL-6, TNF, and dopamine beta-hydroxylase were not increased in the febril phase. The patient was homozygous for the M6941 mutation. We report the first Japanese case of FMF associated with amyloidosis and confirmed by a gene mutation.
Insights
Familial Mediterranean fever (FMF) is a genetic disorder causing periodic fevers and inflammation. This report details the first Japanese case of FMF with amyloidosis, confirmed by genetic mutation analysis.
Area of Science:
- Genetics
- Rheumatology
- Nephrology
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis.
- Amyloidosis is a condition where abnormal proteins build up in organs, potentially leading to organ damage.
- Genetic mutations, particularly in the MEFV gene, are the underlying cause of FMF.
Observation:
- A 39-year-old Japanese male presented with a lifelong history of periodic fevers, peritonitis, and arthritis.
- He developed secondary amyloidosis affecting the kidneys, heart, and colon, necessitating hemodialysis.
- Inflammatory markers (IL-6, TNF) and dopamine beta-hydroxylase were not elevated during febrile episodes.
Findings:
- The patient was diagnosed with FMF based on clinical symptoms and the presence of secondary amyloidosis.
- Genetic analysis revealed the patient was homozygous for the M6941 mutation in the MEFV gene.
- This case represents the first documented instance of FMF associated with amyloidosis in a Japanese patient, confirmed by genetic mutation.
Implications:
- This case highlights the importance of genetic testing in diagnosing FMF, even in atypical presentations or populations where it is less common.
- Understanding the genetic basis of FMF and its association with amyloidosis can aid in early diagnosis and management.
- Further research into the genotype-phenotype correlations of FMF mutations may improve patient outcomes and therapeutic strategies.