Handel M L, Simons L
Arthritis and Inflammation Research Programme, University of New South Wales, Australia.
Baillieres Best Pract Res Clin Rheumatol. 2000 Sep;14(3):595-8. doi: 10.1053/berh.2000.0095.
Familial hypercholesterolaemia is characterized by elevated serum cholesterol, tendon xanthomas, xanthelasmas, arcus corneae and premature atherosclerosis. Rheumatological manifestations include acute episodes of polyarthritis and tendinitis. Patients who are homozygous for familial hypercholesterolaemia have cardiovascular and rheumatological manifestations more frequently and at an earlier age than patients who are heterozygous.
家族性高胆固醇血症的特征是血清胆固醇升高、肌腱黄色瘤、睑黄瘤、角膜弓和早发性动脉粥样硬化。风湿性表现包括多关节炎和肌腱炎的急性发作。与杂合子患者相比,家族性高胆固醇血症纯合子患者更频繁且更早出现心血管和风湿性表现。