Linked Life Data

8093743

Source:http://linkedlifedata.com/resource/pubmed/id/8093743

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8838
pubmed:dateCreated
1993-2-19
pubmed:abstractText
The relevance of heterozygosity for hereditary protein C deficiency as a risk factor for venous thrombosis has been disputed because heterozygotes without symptoms have been identified among blood donors and relatives of homozygotes. As a result, clinicians do not know whether to offer prophylaxis or not. We have compared thrombosis-free survival in 161 heterozygous and normal members of the families of 24 heterozygotes for protein C deficiency referred from several centres in the Netherlands and with a history of symptoms. We studied the influence of heterozygosity and of putative additional risk factors on the occurrence of thrombotic events noted when a medical history was taken. Protein C activities were measured but a diagnosis of heterozygosity was based on the presence of the specific mutation in one of the protein C genes identified in the proband of the family. We found a significant difference in the thrombosis-free survival of the 77 heterozygotes and 84 normals: by age 45, 50% of heterozygotes and 10% of normal relatives can be expected to have had a manifestation of venous thromboembolism. The presence of such a mutation was clearly associated with an increased risk of venous thrombotic events. Thrombotic events occurred more often in years in which the patient had been immobile for more than a week or had had surgery. Other putative risk factors showed no significant effect in the incidence of thrombotic events. About 50% of all first episodes and 65% of recurrences of venous thromboembolism in the heterozygotes were spontaneous--ie, there was no predisposing event such as surgery or pregnancy. There was no increased risk for arterial occlusions in heterozygotes. We conclude that members of the family of a symptomatic heterozygote proband who are heterozygous for the mutation in the protein C gene have an increased risk of venous thrombotic events compared with their normal family members. For such individuals prophylactic anticoagulation should be considered; the decision will need to be taken on an individual basis.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
16
pubmed:volume
341
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
134-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect.
pubmed:affiliation
Department of Hematology, University Hospital Leiden, Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't