Individualized bleeding risk assessment through thromboelastography: A case report of may–hegglin anomaly in preterm twin neonates

Ilaria Amodeo, Genny Raffaeli, Federica Vianello, Giacomo Cavallaro, Valeria Cortesi, Francesca Manzoni, Giacomo S. Amelio, Silvia Gulden, Fabio Mosca, Stefano Ghirardello

Research output: Contribution to journalArticlepeer-review

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 macrothrombocy-topenia 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 immunofluores-cence 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.

Original languageEnglish
Article number878
JournalChildren
Volume8
Issue number10
DOIs
Publication statusPublished - Oct 2021

Keywords

  • Congenital thrombocytopenia
  • Macrothrombocytopenia
  • May–Hegglin anomaly
  • MYH9-related disorders
  • Viscoelastic test

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint

Dive into the research topics of 'Individualized bleeding risk assessment through thromboelastography: A case report of may–hegglin anomaly in preterm twin neonates'. Together they form a unique fingerprint.

Cite this