TY  - JOUR
TI  - Mevalonic Aciduria Presenting with
Recurrent Perianal Fistulas
AB  - Mevalonic aciduria (MA) is a severe and rare clinical entity characterized by growth failure, neuropsychomotor development delay,
dysmorphic features, periodic fever episodes of involving joints, abdominal organs and skin. Severe gastrointestinal involvement, perianal or gastrointestinal
ulcers can be seen rarely.MA is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme
activity largely determining disease severity. Mevalonate kinase is crucial for the biosynthesis of nonsterol isoprenoids, which mediate protein
prenylation. These gene defects not only intervene in the mevalonate pathway of cholesterol synthesis but also give rise to episodes of hyperinflammation
with increased secretion of interleukin 1b (IL-1β). Although the precise pathogenesis of MA remains unclear, increasing evidence
suggests that deficiency in protein prenylation leads to innate immune activation and systemic hyperinflammation. Recent treatment approaches
have focused mainly on cytokine-directed biologic therapy because of the understanding of MA as an autoinflammatory disorder. In this paper,
we present a 22-year-old female patient with MA disease who had been suffering from recurrent fever attacks, perianal abscesses, and fistulas
since her infancy. She has been followed in our clinic since the age of 15 years. She was successfully treated with canakinumab. IL-1 blockade
appears to be effective in treating the gastrointestinal complications of MA.
AU  - kilic, sara sebnem
AU  - KOSE, HÜLYA
AU  - Temel, Sehime G
AU  - ozemri sag, sebnem
AU  - Cekic, Sukru
DO  - 10.5336/caserep.2021-86997
PY  - 2022
JO  - Türkiye Klinikleri Journal of Case Reports
VL  - 30
IS  - 2
SN  - 2147-9291
SP  - 136
EP  - 140
DB  - TRDizin
UR  - http://search/yayin/detay/529840
ER  -