Publication: An Adolescent with Hyperimmunoglobulinemia D and Periodic Fever Syndrome Responding to Simvastatin Treatment
Abstract
Hiperimmünoglobulin D ve periyodik ateş sendromu kolesterol ve izoprenoid biyo-sentezinde görev alan mevalonat kinaz enzimindeki kusura bağlı olarak ortaya çıkmaktadır. Bu otozomal resesif kalıtımla geçmiş olan oto-inflamatuvar sendrom tekrarlayan ateş atakları, karın ağrısı, lenfadenopati, cilt lezyonları ve eklem tutulumu ile karakterizedir. Bu yazıda periyodik ateş ve hiperimmünoglobulin D sendromu tanısı ile kliniğimizde izlenmekte olan 12 yaşındaki bir erkek çocuğunda hipolipidemik ajan simvastatin ile uyguladığımız tedavi yaklaşımı sunuldu. Hiperimmünoglobulin D ve periyodik ateş sendromu olan ve diğer antiinflamatuvar tedavilere yanıt vermeyen bir adölesanda simvastatin tedavisi ile klinik düzelme gözlendi. Bu tedavinin mevalonik asit artışını veya izoprenoid azlığını engelleyerek tekrarlayan ateş ataklarını azalttığı düşünüldü.
The hyperimmunoglobulinemia D and periodic fever syndrome is proposed to be caused by a defect in the activity of mevalonate kinase enzyme which is involved in cholesterol and non-sterol isoprenoid biosynthesis. This autosomal recessive inherited auto- inflammatory syndrome is characterized by recurrent fever attacks, abdominal pain, lymphadenopathy, skin lesions and joint involvement. In this article, we present our therapeutic approach with the hypolipidemic agent, simvastatin, in a 12-year-old boy followed up with a diagnosis of hyperimmunoglobulinemia D and periodic fever syndrome. Simvastatin treatment of an adolescent with hyperimmunoglobulinemia D and periodic fever syndrome unresponsive to anti-inflammatory strategies has resulted in a favorable outcome. This treatment is thought to reduce the recurrent fever attacks by reducing the mevalonic acid increase or isopreniod shortage.
The hyperimmunoglobulinemia D and periodic fever syndrome is proposed to be caused by a defect in the activity of mevalonate kinase enzyme which is involved in cholesterol and non-sterol isoprenoid biosynthesis. This autosomal recessive inherited auto- inflammatory syndrome is characterized by recurrent fever attacks, abdominal pain, lymphadenopathy, skin lesions and joint involvement. In this article, we present our therapeutic approach with the hypolipidemic agent, simvastatin, in a 12-year-old boy followed up with a diagnosis of hyperimmunoglobulinemia D and periodic fever syndrome. Simvastatin treatment of an adolescent with hyperimmunoglobulinemia D and periodic fever syndrome unresponsive to anti-inflammatory strategies has resulted in a favorable outcome. This treatment is thought to reduce the recurrent fever attacks by reducing the mevalonic acid increase or isopreniod shortage.