May–Hegglin anomaly (MHA) is a rare autosomal dominant disorder in the spectrum of myosin heavy chain-related disorders (MYH9-RD), characterized by congenital macrothrombocytopenia and white blood cell inclusions. MHA carries a potential risk of hemorrhagic complications. Bleeding diathesis is usually mild, but sporadic, life-threatening events have been reported. Data regarding the clinical course and outcomes of neonatal MYH9-RD are limited, and specific guidelines on platelet transfusion in asymptomatic patients are lacking. We present monochorionic twins born preterm at 32 weeks of gestation to an MHA mother; both presented with severe thrombocytopenia at birth. Peripheral blood smear demonstrated the presence of macrothrombocytes, and immunofluorescence confirmed the diagnosis of MHA. Close clinical monitoring excluded bleeding complications, and serial hemostatic assessments through a viscoelastic system demonstrated functionally normal primary hemostasis in both patients. Therefore, prophylactic platelet transfusions were avoided. Whole DNA sequencing confirmed the pathogenetic variant of MHA of maternal origin in both twins. Thromboelastography allowed real-time bedside bleeding risk assessment and supported individualized transfusion management in preterm newborns at risk of hemostatic impairment. This report suggests that dynamic and appropriate clotting monitoring may contribute to the more rational use of platelets’ transfusions while preserving patients with hemorrhagic complications and potential transfusion-related side effects.

Individualized bleeding risk assessment through thromboelastography : a case report of May-Hegglin anomaly in preterm twin neonates / I. Amodeo, G. Raffaeli, F. Vianello, G. Cavallaro, V. Cortesi, F. Manzoni, G.S. Amelio, S. Gulden, F. Mosca, S. Ghirardello. - In: CHILDREN. - ISSN 2227-9067. - 8:10(2021 Oct 01), pp. 878.1-878.8. [10.3390/children8100878]

Individualized bleeding risk assessment through thromboelastography : a case report of May-Hegglin anomaly in preterm twin neonates

Genny Raffaeli;Valeria Cortesi;Francesca Manzoni;Giacomo S. Amelio;Silvia Gulden;Fabio Mosca;
2021-10-01

Abstract

May–Hegglin anomaly (MHA) is a rare autosomal dominant disorder in the spectrum of myosin heavy chain-related disorders (MYH9-RD), characterized by congenital macrothrombocytopenia and white blood cell inclusions. MHA carries a potential risk of hemorrhagic complications. Bleeding diathesis is usually mild, but sporadic, life-threatening events have been reported. Data regarding the clinical course and outcomes of neonatal MYH9-RD are limited, and specific guidelines on platelet transfusion in asymptomatic patients are lacking. We present monochorionic twins born preterm at 32 weeks of gestation to an MHA mother; both presented with severe thrombocytopenia at birth. Peripheral blood smear demonstrated the presence of macrothrombocytes, and immunofluorescence confirmed the diagnosis of MHA. Close clinical monitoring excluded bleeding complications, and serial hemostatic assessments through a viscoelastic system demonstrated functionally normal primary hemostasis in both patients. Therefore, prophylactic platelet transfusions were avoided. Whole DNA sequencing confirmed the pathogenetic variant of MHA of maternal origin in both twins. Thromboelastography allowed real-time bedside bleeding risk assessment and supported individualized transfusion management in preterm newborns at risk of hemostatic impairment. This report suggests that dynamic and appropriate clotting monitoring may contribute to the more rational use of platelets’ transfusions while preserving patients with hemorrhagic complications and potential transfusion-related side effects.
May–Hegglin anomaly; MYH9-related disorders; congenital thrombocytopenia; macrothrombocytopenia; viscoelastic test
Settore MED/38 - Pediatria Generale e Specialistica
CHILDREN
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/872395
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