Comment on: Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd-Chiari syndrome and polyarteritis nodosa.

摘要

Sir, We read with interest the letter by Standing et al. [1] on a case of FMF complicated by PAN and Budd-Chiarri syndrome (BCS). This case deserves special interest as the authors claim a pathophysiological association of FMF not only with PAN but also with BCS. The FMF-PAN association has already been described in the literature [2]. However, in this letter, Standing et al. [1] claim association of BCS with both the two other entities, namely FMF and PAN. We note that, in this case, the first well-documented medical problem of the patient is BCS. Thrombotic tendency predisposed by the methelenetetra-hydrofolate reductase mutation documented might suffice for a BCS occurring; however, the case was only hetero-zygote and homocystein status is not reported. Furthermore, the case also developed pain of the abdomen, myalgias, anorexia and night sweats. According to Standing et al. [1], these symptoms indicated FMF; a favourable response to colchicine was considered as pointing to FMF diagnosis. They claim that this diagnosis is further supported by E148Q homozygosity of the Mediterranean Fever gene.