Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism

S Kuhle; D A Lane; K Jochmanns; C Male; P Quehenberger; K Lechner; I Pabinger

Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism

Thromb Haemost. 2001 Oct;86(4):1007-11.

Authors

S Kuhle¹, D A Lane, K Jochmanns, C Male, P Quehenberger, K Lechner, I Pabinger

Affiliation

¹ Dept. of Paediatrics, Vienna University Hospital, Austria.

PMID: 11686316

Abstract

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.

Publication types

Case Reports
Review

MeSH terms

Adolescent
Age of Onset
Amino Acid Substitution*
Antithrombin III / chemistry
Antithrombin III / genetics*
Antithrombin III Deficiency / epidemiology
Antithrombin III Deficiency / genetics*
Binding Sites
Brain Ischemia / genetics
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Genotype
Humans
Infant
Infant, Newborn
Infarction, Middle Cerebral Artery / genetics
Male
Mutation, Missense*
Point Mutation*
Thromboembolism / genetics*
Thrombophilia / epidemiology
Thrombophilia / genetics*
Venous Thrombosis / genetics
Yugoslavia / epidemiology

Substances

antithrombin III Budapest 2
Antithrombin III