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Published on: December 15, 2011
A case of recurrent abdominal pain with fever and urticarial eruption
Chang Geun Lee1, Yun Jeong Lim, Hyoun Woo Kang
1Department of Internal Medicine, Dongguk University Ilsan Hospital, 27 Donggung-ro, Ilsandong-gu, Goyang 410-773, Korea.
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the Mediterranean and Middle Eastern countries in recent years. Although FMF has been relatively rare in Korea until now, proper recognition of FMF might lead to more frequent diagnoses of FMF. We experienced an interesting case, a 31-year-old Korean man who presented with recurrent abdominal pain with fever and urticarial eruption for 10 years. DNA analysis showed complex mutations (p.Leu110Pro, p.Glu148Gln) in the MEFV gene. To date, three cases have been reported, and this case of FMF with skin conditions is the first case in Korea.
Insights
Familial Mediterranean fever (FMF), a genetic disorder causing inflammation, is increasingly diagnosed globally. This report details the first Korean case of FMF with skin manifestations, highlighting MEFV gene mutations.
Area of Science:
- Genetics and Immunology
- Rare Disease Diagnosis
Background:
- Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder.
- It stems from MEFV gene mutations affecting pyrin function, prevalent in Mediterranean/Middle Eastern populations.
- Recent reports indicate FMF occurrence outside traditional regions.
Observation:
- A 31-year-old Korean male presented with a decade of recurrent abdominal pain, fever, and urticarial rash.
- Genetic analysis revealed complex MEFV gene mutations (p.Leu110Pro, p.Glu148Gln).
Findings:
- This case represents the first documented instance of FMF with cutaneous involvement in Korea.
- The patient's presentation underscores the expanding geographic distribution of FMF.
- Specific MEFV mutations were identified as the cause.
Implications:
- Increased awareness of FMF is crucial for timely diagnosis in non-endemic regions like Korea.
- This case highlights the importance of considering FMF in patients with recurrent inflammatory symptoms, including skin conditions.
- Further research may elucidate the genetic and clinical spectrum of FMF in diverse populations.
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