High prevalence of hereditary thrombotic thrombocytopenic purpura in Central Norway: from clinical observation to evidence.


Autoria(s): von Krogh, A S; Quist-Paulsen, P; Waage, A; Langseth, Ø O; Thorstensen, K; Brudevold, R; Tjønnfjord, G E; Largiadèr, Carlo Rodolfo; Lämmle, Bernhard; Kremer Hovinga, Johanna Anna
Data(s)

08/01/2016

Resumo

BACKGROUND Hereditary thrombotic thrombocytopenic purpura (TTP) caused by ADAMTS13 mutations is a rare, but serious condition. The prevalence is unknown, but seems to be high in Norway. OBJECTIVES To identify all patients with hereditary TTP in Central Norway and to investigate the prevalence of hereditary TTP and the population frequencies of two common ADAMTS13 mutations. Patients/Methods Patients were identified in a cross-sectional study within Central Norway Health Region by means of three different search strategies. Frequencies of ADAMTS13 mutations, c.4143_4144dupA and c.3178 C>T (p.R1060W) were investigated in a population-based cohort (500 alleles) and in healthy blood donors (2104 alleles) by taking advantage of the close neighbourhood of the ADAMTS13 and ABO blood group gene loci. The observed prevalence of hereditary TTP was compared to the rates of ADAMTS13 mutation carriers in different geographical regions. RESULTS We identified 11 families with hereditary TTP in Central Norway during the 10-year study period. The prevalence of hereditary TTP in Central Norway was 16.7 x 10(-6) . The most prevalent mutation was c.4143_4144dupA, accounting for two thirds of disease causing alleles among patients and having an allelic frequency of 0.33% in the Central, 0.10% in the Western, and 0.04% in the Southeastern Norwegian population. The allelic frequency of c.3178 C>T (p.R1060W) in the population was even higher (0.3-1%), but this mutation was infrequent among patients, with no homozygous cases. CONCLUSIONS We found a high prevalence of hereditary TTP in Central Norway and an apparently different penetrance of ADAMTS13 mutations. This article is protected by copyright. All rights reserved.

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Identificador

http://boris.unibe.ch/74606/1/jth13186.pdf

http://boris.unibe.ch/74606/8/JKH_BL_OA053%20von%20Krogh%20et%20al_JTH%202016_Suppl%20Info.docx

von Krogh, A S; Quist-Paulsen, P; Waage, A; Langseth, Ø O; Thorstensen, K; Brudevold, R; Tjønnfjord, G E; Largiadèr, Carlo Rodolfo; Lämmle, Bernhard; Kremer Hovinga, Johanna Anna (2016). High prevalence of hereditary thrombotic thrombocytopenic purpura in Central Norway: from clinical observation to evidence. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 14(1), pp. 73-82. Wiley 10.1111/jth.13186 <http://dx.doi.org/10.1111/jth.13186>

doi:10.7892/boris.74606

info:doi:10.1111/jth.13186

info:pmid:26566785

urn:issn:1538-7836, 1538-7933

Idioma(s)

eng

Publicador

Wiley

Relação

http://boris.unibe.ch/74606/

Direitos

info:eu-repo/semantics/restrictedAccess

info:eu-repo/semantics/restrictedAccess

Fonte

von Krogh, A S; Quist-Paulsen, P; Waage, A; Langseth, Ø O; Thorstensen, K; Brudevold, R; Tjønnfjord, G E; Largiadèr, Carlo Rodolfo; Lämmle, Bernhard; Kremer Hovinga, Johanna Anna (2016). High prevalence of hereditary thrombotic thrombocytopenic purpura in Central Norway: from clinical observation to evidence. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 14(1), pp. 73-82. Wiley 10.1111/jth.13186 <http://dx.doi.org/10.1111/jth.13186>

Palavras-Chave #610 Medicine & health
Tipo

info:eu-repo/semantics/article

info:eu-repo/semantics/publishedVersion

PeerReviewed