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Prolonged Peritoneal Attack: A Rare but Crucial Clinical Presentation of Familial Mediterranean Fever
Hirohisa Fujikawa1, Takayuki Ando1, Junichi Hirahashi1
1Center for General Medicine Education, School of Medicine, Keio University, Tokyo, JPN.
Abstract:
Familial Mediterranean fever (FMF) presents with various symptoms. Episodic abdominal pain is one of the most prevalent clinical characteristics of FMF and usually improves within 24-48 hours. We encountered a 50-year-old male patient from Japan who experienced recurrent episodes (several episodes occurring per year) of abdominal pain with fever since his late 20s. The abdominal pain and fever began almost simultaneously in each episode. The abdominal pain typically lasted for 1-2 weeks, while the fever subsided within two days. He remained as immobile as possible because walking worsened the pain. MEditerranean FeVer (MEFV) gene analysis revealed exon 10 mutations (p.Met694Ile), resulting in an FMF diagnosis. Colchicine therapy effectively controlled the patient's FMF attacks. Although prolonged abdominal pain lasting over a week is an uncommon clinical characteristic of FMF, a proper diagnosis can improve the quality of life and prevent secondary amyloidosis. Therefore, clinicians should be aware of this rare clinical characteristic.
Insights
Familial Mediterranean Fever (FMF) can present with prolonged abdominal pain, lasting over a week. Early diagnosis and colchicine treatment are crucial for managing this rare clinical characteristic.
Area of Science:
- Genetics
- Internal Medicine
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an autoinflammatory disorder characterized by recurrent inflammatory episodes.
- Abdominal pain and fever are common symptoms, typically resolving within 24-48 hours.
Observation:
- A 50-year-old Japanese male presented with recurrent episodes of abdominal pain and fever since his late 20s.
- His abdominal pain episodes lasted 1-2 weeks, significantly longer than the typical FMF presentation.
- Immobility was necessary during episodes due to pain exacerbation with movement.
Findings:
- Genetic analysis revealed MEFV gene exon 10 mutations (p.Met694Ile), confirming the FMF diagnosis.
- Colchicine therapy proved effective in controlling the patient's FMF attacks.
- The case highlights prolonged abdominal pain as an uncommon but possible clinical manifestation of FMF.
Implications:
- Awareness of rare clinical presentations, such as prolonged abdominal pain, is essential for accurate FMF diagnosis.
- Timely diagnosis and treatment, including colchicine, can improve patient quality of life.
- Effective management of FMF is critical to prevent long-term complications like secondary amyloidosis.
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