Naslov
Familial acquired thrombotic thrombocytopenic purpura: ADAMTS13 ingibitory autoantibodies in identical twins

Autori
Studt, Jan-Dirk ; Kremer Hoviga, Johanna ; Radonić, Radovan ; Gašparović, Vladimir ; Ivanović, Dragutin ; Merkler, Marijan ; Wirthmueller, Urs ; Furlan, Miha ; Laemmle, Bernhard

Izvornik
Blood (0006-4971) 103 (2004), 11; 4195-4197

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
TTP; inhibitory autoantibodies; identical twins

Sažetak
Thrombotic thrombocytopenic purpura (TTP) either occurs in a congenital form caused by ADAMTS13 gene mutations or it is acquired and most often due to ADAMTS13 inhibitory autoantibodies. In congenital TTP siblings are often affected, while acquired TTP accurs sporadically and famillial clustering has not been described so far. We report identical twin sisters suffering from acquired TTP due to immunoglobulin G (IgG) autoantibodies inactivating ADAMTS13, suggesting an important role of hitherto unidentified genetic determinants of ADAMTS13 inhibitor formation. These cases also demonstrate that familial clustering is not sufficient for unambiguously diagnosing hereditary ADAMTS13 deficiency and congenital TTP.

Izvorni jezik
Engleski

POVEZANOST RADA