A patient presents with tendonitis, xanthomas, arcus. What is your first assumption of disease?

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Multiple Choice

A patient presents with tendonitis, xanthomas, arcus. What is your first assumption of disease?

The signs point to a lipid disorder causing very high LDL cholesterol. Tendon xanthomas are cholesterol deposits in tendons, especially the Achilles, and arcus (a lipid ring around the cornea) reflects lipid deposition in the eye. When these appear together, particularly in a younger patient, they most strongly indicate primary hyperlipidemia due to familial hypercholesterolemia. This condition stems from defective LDL clearance—often from LDL receptor mutations or ApoB-100 changes—leading to markedly elevated LDL and early risk of atherosclerosis. Other lipid problems, like hypertriglyceridemia, don’t typically present with tendon xanthomas and corneal arcus, and hypolipidemia or liver disease wouldn’t explain this pattern.

The signs point to a lipid disorder causing very high LDL cholesterol. Tendon xanthomas are cholesterol deposits in tendons, especially the Achilles, and arcus (a lipid ring around the cornea) reflects lipid deposition in the eye. When these appear together, particularly in a younger patient, they most strongly indicate primary hyperlipidemia due to familial hypercholesterolemia. This condition stems from defective LDL clearance—often from LDL receptor mutations or ApoB-100 changes—leading to markedly elevated LDL and early risk of atherosclerosis. Other lipid problems, like hypertriglyceridemia, don’t typically present with tendon xanthomas and corneal arcus, and hypolipidemia or liver disease wouldn’t explain this pattern.

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