A 7-year-old child presents with yellowish patches over her knees. Her parents report a family history of high cholesterol. Blood tests reveal a high total cholesterol level. What are the potential diagnoses and next steps?
The presence of yellowish patches (xanthomas) and a family history of high cholesterol in a young child suggest a diagnosis of familial hypercholesterolemia. This is a genetic disorder characterized by high cholesterol levels, specifically elevated levels of low-density lipoprotein (LDL), from birth. Early treatment is essential to prevent early onset of atherosclerosis and cardiovascular disease. The child should be referred to a lipid specialist. Dietary changes and lipid-lowering medications may be indicated.