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Published on: February 8, 2019
Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever
Yunus Ugan1, Atalay Doğru1, Hüseyin Şencan2
1Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Suleyman Demirel University, 32260 Isparta, Turkey.
Abstract:
Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN). We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.
Insights
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by MEFV gene mutations. This case highlights a rare FMF presentation with both sacroiliitis and polyarteritis nodosa (PAN).
Area of Science:
- Genetics
- Rheumatology
- Immunology
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance.
- It is characterized by recurrent fever and serositis, caused by mutations in the MEFV gene.
- While over 310 MEFV variants exist, clinical diagnosis remains standard.
Purpose of the Study:
- To report a rare clinical presentation of FMF.
- To discuss the association of FMF with sacroiliitis and polyarteritis nodosa (PAN).
Main Methods:
- Case report.
- Clinical diagnosis of FMF.
- Review of literature on FMF, sacroiliitis, and vasculitis.
Main Results:
- The case presented a rare co-occurrence of FMF, sacroiliitis, and PAN.
- Polyarteritis nodosa (PAN) and Henoch-Schonlein purpura are the most common vasculitides associated with FMF.
Conclusions:
- FMF can present with rare complications like sacroiliitis and PAN.
- Awareness of these associations is crucial for comprehensive patient management.
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