Alopecia areata (AA), a complex autoimmune hair loss condition, affects approximately 2.1% of the population. Individuals with AA have increased susceptibility to diseases such as atopy and autoimmune disorders, but little is known about first-degree relatives' risk to develop AA and associated conditions. Genetic counseling for multifactorial conditions, including autoimmune disease is complex, but potentially valuable. Anecdotally we know patients with AA ask medical providers about recurrence risk for family members as well as question whether they and their relatives are at risk for other conditions. Data on AA recurrence risks and comorbid conditions among relatives of affected individuals comprise valuable information that may guide clinical management by genetic counselors. This study investigated the recurrence risk of AA and compared the prevalence of associated conditions among first-degree relatives to the general population. The study also assessed the validity of self-reported conditions for a subset of participants. Relatives of individuals with AA (N = 155), recruited from the National Alopecia Areata Foundation Registry, completed telephone surveys about their personal medical history for 70 medical conditions associated with AA. Medical records for 60 participants were compared to self-reported responses. One-sided proportional tests, in which it is assumed the disease prevalence in first-degree relatives is higher than for those in the general population, yielded a 7.8% estimated risk of AA versus the general population prevalence of 2.1%. Furthermore, there are increased risks of 33 associated conditions, including atopy and other autoimmune conditions. Comparison of medical reports to self-reported conditions indicated only 12% was incongruent. The findings may help genetic counselors better serve patients and their families by informing them of lifetime risk estimates of developing AA and comorbid conditions, resulting in early diagnosis of autoimmune diseases in AA families. Findings also provide evidence supporting the validity of self-report data in AA families.

中文翻译：

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自身免疫性疾病的家族意义：斑秃的复发风险和一级亲属的相关状况。

斑秃（AA）是一种复杂的自身免疫性脱发病，影响了约2.1％的人口。患有AA的人对特应性疾病和自身免疫性疾病等疾病的敏感性增加，但对一级亲属发展AA和相关疾病的风险知之甚少。包括自身免疫性疾病在内的多因素疾病的遗传咨询非常复杂，但具有潜在的价值。有趣的是，AA患者会询问医疗人员家庭成员的复发风险，并质疑他们及其亲属是否有其他疾病的风险。有关受影响个体亲属中AA复发风险和合并症的数据包括有价值的信息，可指导遗传咨询师的临床管理。这项研究调查了AA的复发风险，并比较了一级亲属与普通人群的相关疾病患病率。该研究还评估了一部分参与者自我报告疾病的有效性。从国家脱发症地区基金会注册处招募的患有AA（N = 155）的亲戚完成了有关其与70 AA相关疾病的个人病史的电话调查。将60名参与者的病历与自我报告的反应进行比较。假设一级亲属的疾病患病率高于一般人群中的患病率，所以这种单方面的比例测试得出的机管局患AA的风险为7.8％，而一般人群的患病率为2.1％。此外，存在33种相关状况的风险增加，包括特应性疾病和其他自身免疫性疾病。将医学报告与自我报告的状况进行比较表明，只有12％的人不一致。这些发现可能会帮助遗传咨询师更好地为患者及其家属提供有关发展中AA和合并症的终生风险估计，从而对AA家庭中的自身免疫性疾病进行早期诊断。研究结果还提供了证据，支持AA家庭自我报告数据的有效性。