Linked Life Data

18293119

Source:http://linkedlifedata.com/resource/pubmed/id/18293119

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7-8
pubmed:dateCreated
2008-2-22
pubmed:abstractText
QUESTION UNDER STUDY: In most countries hypersensitivity to vitamin K antagonists (VKA) is considered to be a rare congenital bleeding diathesis. It occurs in patients with FIX propeptide mutations at locus -10. We present a Swiss family with two patients who suffered major bleedings under oral anticoagulant treatment in the presence of therapeutic or subtherapeutic INR levels and abnormally prolonged aPTT. In both patients a mutation in the propeptide of FIX at locus -10 with substitution of alanine by threonine (Ala-10Thr) was found. In one patient FIX clotting activity was found to be severely reduced (2%). The observed bleeding tendency is related to this--compared to the other vitamin K dependent factors (FII, FVII, FX)--excessively and disproportionately low level of FIX. Three generations of this family were tested for propeptide mutations, which are transmitted in an X-chromosomal recessive mode of inheritance. Apart from the two symptomatic male patients we found another male with the mutation who has not been exposed to VKA, six female carriers and four potential male carriers in the fourth generation who have not been tested. A founder effect for this mutation has been previously described for cases in Switzerland and Germany. CONCLUSION: FIX propeptide mutation-associated hypersensitivity to VKA is a rare occurrence in Switzerland. The severity of associated bleeding complications and the reversible nature of the bleeding diathesis may nonetheless warrant increased awareness on the part of primary care physicians in Switzerland.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1424-7860
pubmed:author
pubmed:issnType
Print
pubmed:day
23
pubmed:volume
138
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
100-7
pubmed:dateRevised
2011-2-15
pubmed:meshHeading
pubmed-meshheading:18293119-Aged, pubmed-meshheading:18293119-Alanine, pubmed-meshheading:18293119-Amino Acid Substitution, pubmed-meshheading:18293119-Anticoagulants, pubmed-meshheading:18293119-Coumarins, pubmed-meshheading:18293119-Drug Hypersensitivity, pubmed-meshheading:18293119-Factor IX, pubmed-meshheading:18293119-Heart Valve Prosthesis Implantation, pubmed-meshheading:18293119-Hemorrhage, pubmed-meshheading:18293119-Heterozygote, pubmed-meshheading:18293119-Humans, pubmed-meshheading:18293119-International Normalized Ratio, pubmed-meshheading:18293119-Male, pubmed-meshheading:18293119-Mutation, pubmed-meshheading:18293119-Partial Thromboplastin Time, pubmed-meshheading:18293119-Pedigree, pubmed-meshheading:18293119-Protein Precursors, pubmed-meshheading:18293119-Switzerland, pubmed-meshheading:18293119-Threonine, pubmed-meshheading:18293119-Vitamin K
pubmed:year
2008
pubmed:articleTitle
Congenital hypersensitivity to vitamin K antagonists due to FIX propeptide mutation at locus -10: a (not so) rare cause of bleeding under oral anticoagulant therapy in Switzerland.
pubmed:affiliation
Department of Internal Medicine, University Hospital, Ramistrasse 100, Zurich, Switzerland. silvia.ulrich@usz.ch
pubmed:publicationType
Journal Article