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Familial occurrence of acquired thrombotic thrombocytopenic purpura caused by ADAMTS-13 inhibitory autoantibodies

, : Familial occurrence of acquired thrombotic thrombocytopenic purpura caused by ADAMTS-13 inhibitory autoantibodies. Blood 102(11): 546a, November 16

Background: TTP occurs either in a constitutional form caused by ADAMTS13 gene defects leading to severe ADAMTS-13 deficiency, or in an acquired form often due to autoantibodies inhibiting ADAMTS-13 activity. In hereditary TTP siblings are often affected while acquired TTP occurs sporadically and family affection has not been described so far. We report two identical twin sisters suffering from acquired TTP due to ADAMTS-13 inhibitory autoantibodies. Patients and results: Two identical twin sisters presented with a first bout of classical TTP at 23 (sister 1) and 24 (sister 2) years of age, respectively, which resolved under plasma exchange treatment including corticosteroids. In sister 1, additional vincristine was given. In both sisters initial ADAMTS-13 activity was <5% and a strong inhibitory antibody against ADAMTS-13 was detected in their plasma. Investigation of follow up plasma samples taken during clinical remission 17 months (sister 1) and 5 months (sister 2) after the initial episode again revealed in both sisters <5% ADAMTS-13 activity and the presence of inhibitors, albeit of a lower titer. In samples taken 35 and 37 months (sister 1) and 23 and 25 months (sister 2) after the initial episode, ADAMTS-13 activities had normalized and no inhibitor was detectable although plasma therapy had not been administered for more than one year. The sisters are otherwise in good health with no signs of other autoimmune diseases such as systemic lupus erythematosus, and a screening for other autoantibodies gave normal results. Conclusions: The described TTP episodes occurred in identical twin sisters at a similar age and were in both cases associated with severe ADAMTS-13 deficiency, suggesting a hereditary cause (ADAMTS 13 mutations). However, the detection of a strong inhibitor in both sisters as well as the normalization of ADAMTS-13 activity without prior plasma therapy demonstrate an acquired familial disease instead. Such familial cases of acquired TTP have not been described so far. Our findings indicate that the criterion of family affection alone does not allow classifying patients unambiguously as hereditary TTP without prior inhibitor screening and/or investigation of the ADAMTS13 gene.


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