iarjmcrIARJMCRIARJMCR2709-3220Homozygous Familial Hypercholesterolemia in A Child with Underlying Acyanotic Congenital Heart DiseaseFamilial hypercholesterolemia (FH) is a genetic disorder characterized by hyper low-density lipoprotein cholesterolemia (LDL-C) and associated risk of premature atherosclerosis. In our case the child presented with generalized body aches and on examination xanthomatosis was present. Acyanotic congenital heart disease (ACHD) was an associated co morbidity which was surgically repaired two years back. The child was not on statins and laboratory evaluation revealed hyper-low-density lipoprotein cholesterolemia. Genetic evaluation was done in which no genetic mutation was reported. For atherosclerotic changes, evaluation was done which came out to be normal. On familial survey, LDL-C was found to be raised in both mother and father with positive history of consanguity. Child was started on statins. In our case, further genetic evaluation could not be performed due to financial constraints. However, the clinical picture and laboratory evaluation strongly suggested the diagnosis of homozygous FH. HoFH is a difficult to treat disease with poor response to medical therapy leaving us with only few treatment modalities like lipoprotein apheresis and novel agents. Therefore, in these patients timely screening and early intervention is crucial for prevention of atheroscelerotic cardiovascular disease (ASCVD).