Inherited antithrombin III deficiency in the neonate

Abstract

Objective: To describe two cases of inherited antithrombin III (AT-III) deficiency presenting at less than or equal to 28 days of age, and to review other neonatal reports.

Research design: Clinical descriptions of two patients and literature review of known references to the neonatal presentation of this disorder.

Setting: Academic neonatal intensive care unit.

Patients: Case reports--two patients with thrombosis and family history of AT-III deficiency. Literature review--neonatal patients with thrombosis and diagnosis of AT-III deficiency or parental diagnosis of AT-III deficiency or diagnosis of AT-III deficiency alone.

Selection procedures: Random observation (case reports) and literature search for cases of AT-III deficiency diagnosed in the neonatal period or presenting with thrombosis and a positive family history of the disorder.

Interventions: Fresh frozen plasma, heparin, and AT-III concentrate were employed in the current case reports. The cases from the literature used combinations of the above or no intervention.

Measurements/main results: Twenty-three cases, including the current reports, of suspected or proved AT-III deficiency were found, with at least 11 cases of thrombosis and at least 10 deaths.

Conclusions: Significant morbidity and mortality from inherited AT-III deficiency can occur in the neonatal period, and the incidence of affected neonatal patients is probably underestimated. Careful family history, early recognition, diagnosis, and specific treatment are important for management of this disorder.