Abstract:
RATIONALE:Familial Mediterranean fever (FMF) and adult onset Still's disease (AOSD) have overlapping features, and are categorized as being on the spectrum of autoinflammatory diseases (AIDs). FMF is more prevalent in the Mediterranean region but rarely, described in the Chinese population. PATIENT CONCERNS:We present an interesting case of a Han Chinese AOSD patient with episodic fever, wheals, and polyarthritis for 2 years. DIAGNOSIS:Sequencing analysis found exon 2 mutations of the MEFV gene (c.329T>C [L110P], and c.442G>C [E148Q]). INTERVENTION:Her arthritis was well-controlled with colchicine treatment, but fever, and rashes were not. OUTCOMES:She eventually received tocilizumab, in addition to colchicine, and her symptoms completely disappeared. LESSONS:MEFV mutations may exist in AOSD patients, and treatment with colchicine might be helpful in such patients.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Ou-Yang LJ,Tang KTdoi
10.1097/MD.0000000000010333subject
Has Abstractpub_date
2018-04-01 00:00:00pages
e0333issue
15eissn
0025-7974issn
1536-5964pii
00005792-201804130-00033journal_volume
97pub_type
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