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Familial APS?

On June 1 a Fritsma Factor participant asked if there were any evidence of a familial prevalence for symptomatic antiphospholipid syndrome [APS] or lab evidence for the familial distribution of one of the antiphospholipid antibodies [APAs]: lupus anticoagulant [LA], anti-cardiolipin antibody [ACA], or anti-beta-2-glycoprotein 1. I [Geo] located only a single case report:

Bhattacharya S, Kendra J, Schiach C. A case study of familial anti-phospholipid syndrome. Clin Lab Haematol. 2002;24:313–6. doi: 10.1046/j.1365-2257.2002.00465.x. PMID: 12358894.

However, on June 4, fellow “clotter” Dave McGlasson provided his 1992 abstract, “Berdeaux DH, McGlasson DL, Marlar RA. Familial Association of Antiphospholipid Antibodies in Index Patients with Primary Antiphospholipid Syndrome. Clin Exp Rheumatology, Vol 10/6, pg. 655, Nov/Dec 1992, [click].

Additionally, our mutual colleague Daniel Kaczor commented, “Hi George, Hope you are well. I am responding to the Familial APS issue. Although I can’t think of a published reference I can tell you that I indeed identified a family [mother/father and 3 children including an infant] who were all APA positive and LA negative. The testing was done in my lab when I was at Lehigh Valley Hospital. I can’t remember which experienced the thrombotic episode but that was why we did the testing. Keep up the good work! Regards, Dan Kaczor

Comments (1)
Lupus Anticoagulant
Jun 6, 2023 10:50am

From Dave: On the report of the families with “Familial Association of Antiphospholipid Antibodies” the laboratory testing included LA profile testing and ACA for IgG, IgM, and IgA presence. For LA mixing studies we used the platelet neutralization procedure (PNP), DRVVT, and PT/APTT ratio assays.This was before the STACLOT-LA was readily available and the ACL testing was an LDT method. Primitive stuff in the early 1990s.

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