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Antineutrophil cytoplasmic antibody-positive familial Mediterranean fever and hyperthyroidism: A case report
Sorato Segoe1,2, Ken-Ei Sada2, Keigo Hayashi2
1Okayama University Medical School.
Rationale:
Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder characterized by serositis and recurrent fever. Previous reports identified patients with antineutrophil cytoplasmic antibody (ANCA)-positive FMF, but vasculitis symptoms were not reported.
Patient Concerns:
We report the case of a 44-year-old man with numbness. He had a history of 3 episodes of pleurisy and was being treated with propylthiouracil for hyperthyroidism. Because he was ANCA-positive, we suspected drug-induced ANCA-associated vasculitis and propylthiouracil was discontinued. However, his numbness was not ameliorated, and he again developed high fever with pleurisy.
Diagnosis:
Diagnosis of FMF was finally made, and genetic analysis revealed compound heterozygous mutations in exon 2 of the familial Mediterranean fever gene (L110P/E148Q).
Interventions:
The patient was treated with 0.5 mg/day of colchicine.
Outcomes:
His numbness improved, and fever has not recurred.
Lessons:
Appearance of ANCA and development of vasculitis should be considered in a clinical course of FMF with hyperthyroidism.
Insights
Familial Mediterranean fever (FMF) can present with antineutrophil cytoplasmic antibodies (ANCA) and vasculitis, particularly in patients with hyperthyroidism. Prompt diagnosis and colchicine treatment resolved symptoms in a reported case.
Area of Science:
- Rheumatology
- Genetics
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder causing recurrent fever and serositis.
- While ANCA-positive FMF cases exist, vasculitis has not been previously reported.
Observation:
- A 44-year-old male with hyperthyroidism presented with numbness and recurrent pleurisy.
- Initial suspicion of drug-induced ANCA-associated vasculitis due to propylthiouracil was investigated.
- Persistent symptoms despite drug discontinuation led to further diagnostic evaluation.
Findings:
- Genetic analysis confirmed FMF with compound heterozygous mutations (L110P/E148Q) in the FMF gene.
- The patient was treated with colchicine 0.5 mg/day.
- Colchicine therapy resulted in symptom amelioration, with improved numbness and no recurrent fever.
Implications:
- This case highlights that ANCA positivity and vasculitis should be considered in the clinical presentation of FMF, especially in patients with coexisting hyperthyroidism.
- Early recognition and appropriate management, including genetic confirmation and colchicine treatment, are crucial for FMF patients presenting with atypical symptoms.
- The findings expand the understanding of FMF's clinical spectrum and its potential overlap with other autoimmune and autoinflammatory conditions.
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