Long-standing, Untreated Case of Autosomal Recessive Hypercholesterolemia in a Child

Abstract Background: Autosomal recessive hypercholesterolemia (ARH), a genetic disorder of the affecting lipid metabolism. We present a child with this disorder wo was long undiagnosed, for many years. Clinical Description: An 8-year-old girl presented with multiple soft, painless, progressively increasing since the age of 2 years. Although lipid profiles had been found to be abnormal, she was not evaluated nor treated till 8 years of age. On examination, the swellings were present over upper and lower limbs and buttocks. Management and Outcome: Low-density lipoprotein (LDL) levels were elevated. Histopathology of the lesions confirmed xanthoma with immunohistochemistry being positive for CD 68 and ki67 index - 15%–20%. Next-generation sequencing homozygous mutation involving intron 15 of chromosome variant c2312-1G > A , causing loss of function variant in gene LDL receptor. The child was treated with gradually increasing doses of atorvastatin, with periodic echocardiography. There was progressive lowering of LDL over 6 months. Conclusion: Ignorance among pediatricians regarding this rare entity of ARH may result in lack of initiation of treatment for years, which may lead to detrimental cardiovascular complications in later life. Genetic analysis and prompt treatment can help in improving lipid parameters.