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Homozygous antithrombin deficiency type II causing neonatal thrombosis.

Authors :
Swoboda, Vanessa
Zervan, Katharina
Thom, Katharina
Mannhalter, Christine
Quehenberger, Peter
Pabinger, Ingrid
Male, Christoph
Source :
Thrombosis Research. Oct2017, Vol. 158, p134-137. 4p.
Publication Year :
2017

Abstract

We report four children from different families with homozygous antithrombin (AT) deficiency type II affecting the heparin binding site (p.Leu131Phe mutation). All children had severe spontaneous venous and/or arterial thromboembolic events shortly after birth. This report intends to raise awareness among clinicians about this rare but severe condition. When thrombosis occurs in an otherwise healthy newborn, a severe congenital thrombophilic disorder should be considered. In homozygous AT deficiency type II, AT activity is typically reduced but may also be in the normal range, posing a diagnostic challenge. Rapid diagnosis is important to initiate appropriate therapy. Standard anticoagulation with heparin may prove ineffective in severe AT deficiency, requiring substitution of AT concentrate and early switch to alternative anticoagulants such as vitamin K antagonists. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00493848
Volume :
158
Database :
Academic Search Index
Journal :
Thrombosis Research
Publication Type :
Academic Journal
Accession number :
126350917
Full Text :
https://doi.org/10.1016/j.thromres.2017.08.023