Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry
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Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry. / Mansouri Taleghani, M; von Krogh, A-S; Fujimura, Y; George, J N; Hrachovinová, I; Knöbl, P N; Quist-Paulsen, P; Schneppenheim, R; Lämmle, B; Kremer Hovinga, J A.
in: HAMOSTASEOLOGIE, Jahrgang 33, Nr. 2, 29.05.2013, S. 138-43.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry
AU - Mansouri Taleghani, M
AU - von Krogh, A-S
AU - Fujimura, Y
AU - George, J N
AU - Hrachovinová, I
AU - Knöbl, P N
AU - Quist-Paulsen, P
AU - Schneppenheim, R
AU - Lämmle, B
AU - Kremer Hovinga, J A
PY - 2013/5/29
Y1 - 2013/5/29
N2 - Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13 Hereditary 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 not easy, as evidence based guidelines and long term outcome data are lacking. Through the hereditary TTP registry (www.ttpregistry.net, ClinicalTrials.gov identifier: NCT01257269), which was initiated in 2006 and is open to all patients diagnosed with Upshaw-Schulman syndrome and their family members, we aim to gain further information and insights into this rare disease, which eventually will help to improve clinical management of affected patients.
AB - Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13 Hereditary 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 not easy, as evidence based guidelines and long term outcome data are lacking. Through the hereditary TTP registry (www.ttpregistry.net, ClinicalTrials.gov identifier: NCT01257269), which was initiated in 2006 and is open to all patients diagnosed with Upshaw-Schulman syndrome and their family members, we aim to gain further information and insights into this rare disease, which eventually will help to improve clinical management of affected patients.
KW - Adult
KW - Databases, Genetic
KW - Female
KW - Humans
KW - Internationality
KW - Male
KW - Prevalence
KW - Purpura, Thrombotic Thrombocytopenic
KW - Registries
KW - Risk Factors
KW - Survival Rate
U2 - 10.5482/HAMO-13-04-0026
DO - 10.5482/HAMO-13-04-0026
M3 - SCORING: Journal article
C2 - 23715103
VL - 33
SP - 138
EP - 143
JO - HAMOSTASEOLOGIE
JF - HAMOSTASEOLOGIE
SN - 0720-9355
IS - 2
ER -