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

Stefan Kuhle; David A. Lane; Kristin Jochmanns; Christoph Male; Peter Quehenberger; Klaus Lechner; Ingrid Pabinger

doi:10.1055/s-0037-1616525

Thrombosis and Haemostasis, Table of Contents

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

¹Dept. of Paediatrics, Division of Neonatology and Paediatric Intensive Care, Vienna University Hospital, Austria

²Dept. of Internal Medicine, Division of Haematology, Vienna University Hospital, Austria

,

David A. Lane

³Dept. of Haematology, Imperial College School of Medicine, London, U.K.

,

Kristin Jochmanns

⁴Dept. of Haematology, Academic Hospital, Free University of Brussels, Belgium

,

Christoph Male

⁵Dept. of Paediatrics, Division of General Paediatrics, Vienna University Hospital, Austria

,

Peter Quehenberger

⁶Dept. of Laboratory Medicine, Vienna University Hospital, Austria

,

Klaus Lechner

²Dept. of Internal Medicine, Division of Haematology, Vienna University Hospital, Austria

,

Ingrid Pabinger

²Dept. of Internal Medicine, Division of Haematology, Vienna University Hospital, Austria

› Author Affiliations

Abstract

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.

Keywords

Antithrombin-deficiency - thromboembolism - children

Full Text

References

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