Thromb Haemost 2001; 86(04): 1007-1011
DOI: 10.1055/s-0037-1616525
Special Article
Schattauer GmbH

Homozygous Antithrombin Deficiency Type II (99 Leu to Phe Mutation) and Childhood Thromboembolism

Stefan Kuhle
1   Dept. of Paediatrics, Division of Neonatology and Paediatric Intensive Care, Vienna University Hospital, Austria
2   Dept. of Internal Medicine, Division of Haematology, Vienna University Hospital, Austria
,
David A. Lane
3   Dept. of Haematology, Imperial College School of Medicine, London, U.K.
,
Kristin Jochmanns
4   Dept. of Haematology, Academic Hospital, Free University of Brussels, Belgium
,
Christoph Male
5   Dept. of Paediatrics, Division of General Paediatrics, Vienna University Hospital, Austria
,
Peter Quehenberger
6   Dept. of Laboratory Medicine, Vienna University Hospital, Austria
,
Klaus Lechner
2   Dept. of Internal Medicine, Division of Haematology, Vienna University Hospital, Austria
,
Ingrid Pabinger
2   Dept. of Internal Medicine, Division of Haematology, Vienna University Hospital, Austria
› Author Affiliations
Further Information

Publication History

Received 19 October 2000

Accepted after resubmission 14 May 2001

Publication Date:
09 December 2017 (online)

Summary

We report 5 children from 3 families with homozygous antithrombin deficiency type II affecting the heparin binding site (99 Leu to Phe mutation). Four children had severe spontaneous thromboembolic events (deep leg or caval vein thrombosis, ischaemic stroke) at one week, 3 months, 13 and 14 years of age. The fifth patient, a 17 year-old boy was asymptomatic. Early manifestation of homozygous deficiency calls for prompt and accurate diagnosis. In doubtful cases genetic analysis is required. Long-term oral anticoagulation should be considered in affected individuals.

 
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