Hamostaseologie 2019; 39(S 01): S1-S92
DOI: 10.1055/s-0039-1680210
Poster
P07 Paediatric and Neonatal Thrombosis and Haemostasis and Women Issues in Thrombosis and Haemostasis
Georg Thieme Verlag KG Stuttgart · New York

Congenital Antithrombin Deficiency Type II: A Case Report

S. Schober
1   Department I - General Pediatrics, Hematology/Oncology, University Children's Hospital Tuebingen, Tuebingen, Germany
,
C. Deppisch
1   Department I - General Pediatrics, Hematology/Oncology, University Children's Hospital Tuebingen, Tuebingen, Germany
,
U. Holzer
1   Department I - General Pediatrics, Hematology/Oncology, University Children's Hospital Tuebingen, Tuebingen, Germany
,
R. Handgretinger
1   Department I - General Pediatrics, Hematology/Oncology, University Children's Hospital Tuebingen, Tuebingen, Germany
,
U. Ernemann
2   Department of Radiology, Diagnostic and Interventional Neuroradiology, University Hospital Tuebingen, Tuebingen, Germany
,
N. Kaiser
3   Department III - Pediatric Neurology and Developmental Medicine, University Children's Hospital Tuebingen, Tuebingen, Germany
,
V. Icheva
4   Department II - Pediatric Cardiology, Intensive Care Medicine and Pulmonology, University Children's Hospital Tuebingen, Tuebingen, Germany
,
G. Wiegand
4   Department II - Pediatric Cardiology, Intensive Care Medicine and Pulmonology, University Children's Hospital Tuebingen, Tuebingen, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
13 February 2019 (online)

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    Scientific Research Question: Congenital antithrombin deficiency is a rare autosomal dominant coagulopathy. It is one of the most severe risk factors of thromboembolism. There are two different types of antithrombin deficiency. Type I is characterized by reduced antithrombin levels, whereas type II is distinguished by functional defective antithrombin. Clinically the principal symptom of the disorder is venous thrombosis. Furthermore heparin resistance is also observed.

    Methodology: We describe the case of a now three-year-old boy suffering from a right-sided hemiparesis mainly affecting the right arm. Pregnancy and delivery were uneventful. The first symptoms were discovered at the age of four months, when the boy showed a spasticity of the right arm. The cranial sonography showed a dilatation of the left lateral ventricle. In the following MRI a residual lesion in accordance with a previous infarction of the left middle cerebral artery was detected. The exact time of the event couldn't be determined, but it can be assumed that the infarction happened peri- or prenatal.

    Findings: A thrombophilia screening was performed. With a residual antithrombin activity of 14%, an antithrombin deficiency type II (subtype antithrombin III Budapest) was diagnosed at the age of two years. The genetic test revealed a homozygous missense mutation in the SERPINC1 gen (exon 2: c.391C>T=(p.Leu131Phe)). Due to the severe medical history with thrombosis of the left middle cerebral artery, a long-term phenprocoumon therapy was initiated under systemic heparinization and antithrombin substitution (INR 2-3), one month later. Up to now, no more thrombosis or infarction occurred. The boy is developing steadily, but not quite according to age with moderate impairment of the right arm. Furthermore there were no bleeding complications due to phenprocoumon therapy.

    Conclusions: Early diagnosis of antithrombin deficiency is crucial for starting appropriate treatment because of high risk of recurrence in homozygous patients. Genetic screening of family members should be performed. A long-term phenprocoumon therapy can prevent further events in such patients. It is a safe therapy option if monitored correctly, also currently recommended as the standard life-long secondary prophylaxis.


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    No conflict of interest has been declared by the author(s).