Goldberg S N, Conti-Kelly A M, Greco T P
Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
Am J Med. 1995 Nov;99(5):473-9. doi: 10.1016/s0002-9343(99)80222-8.
To determine the frequency of anticardiolipin antibodies (aCL) and their clinical sequelae in family members of aCL-positive patients.
A prospective serologic and clinical evaluation was performed on 23 patients with elevated aCL titers, 87 blood relatives, 18 spouses, and 37 controls. aCL and antinuclear antibodies (ANA) were measured and clinical histories were assessed for all probands, relatives, spouses, and controls.
Fifty of 87 relatives screened (57%) had evidence of autoantibody production (aCL and/or ANA). Twenty-nine (33%) had positive aCL titers. Twenty were positive for aCL-immunoglobulin (Ig) G, 7 had evidence of both aCL-IgG and aCL-IgM, and an additional 2 were positive for aCL-IgM alone. In contrast, only 1 spouse was aCL-IgG positive. Thirty-two relatives and 1 spouse were ANA positive. All controls were negative for aCL and ANA. Significant differences were noted between relatives and spouses for aCL-IgG (P < 0.00001) and aCL-IgM titers (P < 0.0066), and also between relatives and controls (P < 0.00001 for both). Clinically, 4 cases of systemic lupus erythematosus (SLE), 4 SLE-like diseases, and 8 aCL-associated illnesses (2 premature strokes, 3 recurrent fetal losses, 1 recurrent thrombosis, and 2 cases of thrombocytopenia) were documented in the relatives. All cases were associated with aCL and/or ANA production.
ANA, aCL, and clinical events associated with antiphospholipid antibodies occur with increased frequency in relatives, but not spouses of aCL-positive probands. These results suggest that aCL-related illnesses may be familial.
确定抗心磷脂抗体（aCL）阳性患者家庭成员中抗心磷脂抗体的出现频率及其临床后遗症。
对23例aCL滴度升高的患者、87名血亲、18名配偶及37名对照者进行了前瞻性血清学和临床评估。检测了所有先证者、亲属、配偶及对照者的aCL和抗核抗体（ANA），并评估了其临床病史。
87名接受筛查的亲属中有50名（57%）有自身抗体产生（aCL和/或ANA）的证据。29名（33%）aCL滴度呈阳性。20名aCL - 免疫球蛋白（Ig）G呈阳性，7名同时有aCL - IgG和aCL - IgM阳性的证据，另外2名仅aCL - IgM呈阳性。相比之下，仅1名配偶aCL - IgG呈阳性。32名亲属和1名配偶ANA呈阳性。所有对照者aCL和ANA均为阴性。亲属与配偶之间aCL - IgG（P < 0.00001）和aCL - IgM滴度（P < 0.0066）存在显著差异，亲属与对照者之间也存在显著差异（两者P均< 0.00001）。临床上，亲属中有4例系统性红斑狼疮（SLE）、4例类SLE疾病及8例与aCL相关的疾病（2例早发性中风、3例复发性流产、1例复发性血栓形成及2例血小板减少症）。所有病例均与aCL和/或ANA产生有关。
抗核抗体、抗心磷脂抗体及与抗磷脂抗体相关的临床事件在aCL阳性先证者的亲属中出现频率增加，但在配偶中未增加。这些结果提示与aCL相关的疾病可能具有家族性。
