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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, Vol. 33, No. 2, 29.05.2013, p. 138-43.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Mansouri Taleghani, M, von Krogh, A-S, Fujimura, Y, George, JN, Hrachovinová, I, Knöbl, PN, Quist-Paulsen, P, Schneppenheim, R, Lämmle, B & Kremer Hovinga, JA 2013, 'Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry', HAMOSTASEOLOGIE, vol. 33, no. 2, pp. 138-43. https://doi.org/10.5482/HAMO-13-04-0026

APA

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. (2013). Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry. HAMOSTASEOLOGIE, 33(2), 138-43. https://doi.org/10.5482/HAMO-13-04-0026

Vancouver

Mansouri Taleghani M, von Krogh A-S, Fujimura Y, George JN, Hrachovinová I, Knöbl PN et al. Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry. HAMOSTASEOLOGIE. 2013 May 29;33(2):138-43. https://doi.org/10.5482/HAMO-13-04-0026

Bibtex

@article{3a1c25d83c054f7a89f67263c9b0ca05,
title = "Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry",
abstract = "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.",
keywords = "Adult, Databases, Genetic, Female, Humans, Internationality, Male, Prevalence, Purpura, Thrombotic Thrombocytopenic, Registries, Risk Factors, Survival Rate",
author = "{Mansouri Taleghani}, M and {von Krogh}, A-S and Y Fujimura and George, {J N} and I Hrachovinov{\'a} and Kn{\"o}bl, {P N} and P Quist-Paulsen and R Schneppenheim and B L{\"a}mmle and {Kremer Hovinga}, {J A}",
year = "2013",
month = may,
day = "29",
doi = "10.5482/HAMO-13-04-0026",
language = "English",
volume = "33",
pages = "138--43",
journal = "HAMOSTASEOLOGIE",
issn = "0720-9355",
publisher = "Schattauer",
number = "2",

}

RIS

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 -