Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry
Taleghani, M.-M.; von Krogh, A.-S.; Fujimura, Y.; George, J.-N.; Hrachovinova, I.; Knöbl, P.-N.; Quist-Paulsen, P.; Schneppenheim, R.; Lämmle, B.; Hovinga, J.-A.-K. · Zeitschrift für Orthopädie und Unfallchirurgie · 2013 · Heft 02 · S. 138 bis 143
Bibliografische Angaben
Zusammenfassung
SummaryHereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is a rare recessively inherited disease. Underlying is a severe constitutional deficiency of the von Willebrand factor-cleaving protease, ADAMTS13, due to compound heterozygous or homozygous mutations in the ADAMTS13 gene. The clinical picture is variable and more and more patients with an adult-onset are diagnosed.In the majority of countries the only available treatment is plasma, which when administered regularly can efficiently prevent acute disease bouts. The decision to initiate regular prophylaxis is often…
