Beeharry D, Coupe B, Benbow E W, Morgan J, Kwok S, Charlton-Menys V, France M, Durrington P N
University of Manchester, Division of Cardiovascular and Endocrine Science, Department of Medicine, Manchester Royal Infirmary, Oxford Road, Manchester M13, UK.
Ann Rheum Dis. 2006 Mar;65(3):312-5. doi: 10.1136/ard.2005.040766. Epub 2005 Sep 21.
Patients with heterozygous familial hypercholesterolaemia (HeFH) develop tendon xanthomata (TX), most commonly in their Achilles tendons. Even before tendons are chronically enlarged, tenosynovitis may occur and medical advice be sought. Untreated HeFH carries a high risk of premature coronary heart disease, which can be ameliorated by early diagnosis.
To determine the prevalence of episodes of Achilles tendon pain in HeFH before its diagnosis.
Patients with definite HeFH (Simon Broome criteria) attending a lipid clinic were identified. They completed a questionnaire asking about symptoms relating to their Achilles tendons. Unaffected spouses or cohabiting partners served as controls.
133 patients (47% men) and 87 controls (51% men) participated. TX had been recognised by the referring physicians in <5% of cases. However, 62 (46.6% (95% confidence interval (CI) 38.1 to 55.1)) patients had experienced one or more episodes of pain in one or both Achilles tendons lasting >3 days, whereas only 6 (6.9% (1.6 to 12.2)) controls had done so (difference p<0.001; likelihood ratio 6.75). Typically, in the patients with HeFH the pain lasted 4 days (median). It was described as severe or very severe in 24/62 (38.7% (30.4 to 47.0)) patients with HeFH, but never more than moderate in controls. 35 (26.3% (18.8 to 33.8)) patients with HeFH had consulted a doctor about Achilles tendon pain, but in no case had this led to a diagnosis of HeFH. None of the controls had consulted a doctor.
Measurement of serum cholesterol in patients presenting with painful Achilles tendon could lead to early diagnosis of HeFH.
杂合子家族性高胆固醇血症（HeFH）患者会出现肌腱黄色瘤（TX），最常见于跟腱。甚至在肌腱长期肿大之前，就可能发生腱鞘炎并寻求医疗建议。未经治疗的HeFH有很高的早发性冠心病风险，早期诊断可改善这种情况。
确定HeFH患者在诊断前跟腱疼痛发作的患病率。
确定在脂质诊所就诊的明确HeFH患者（Simon Broome标准）。他们完成了一份关于跟腱相关症状的问卷。未受影响的配偶或同居伴侣作为对照。
133例患者（47%为男性）和87例对照（51%为男性）参与。转诊医生识别出的TX病例不到5%。然而，62例（46.6%（95%置信区间（CI）38.1至55.1））患者在一侧或双侧跟腱经历过一次或多次持续超过3天的疼痛发作，而只有6例（6.9%（1.6至12.2））对照有过这种情况（差异p<0.001；似然比6.75）。通常，HeFH患者的疼痛持续4天（中位数）。在62例HeFH患者中，24例（38.7%（30.4至47.0））将疼痛描述为严重或非常严重，但对照中从未超过中度。35例（26.3%（18.8至33.8））HeFH患者曾就跟腱疼痛咨询过医生，但无一例因此诊断出HeFH。对照中无人咨询过医生。
对出现跟腱疼痛的患者进行血清胆固醇检测可能有助于HeFH的早期诊断。
