Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk. This review aims to provide a comprehensive overview of genetic syndromes that predispose children to bleeding due to haemostatic dysfunction.

Genetic syndromes associated with bleeding diathesis related to haemostatic disorders were identified using the Human Phenotype Ontology. A comprehensive literature review was conducted to summarise the clinical and laboratory findings, as well as the types of haemostatic abnormalities associated with each genetic syndrome.

Eighteen genetic diseases were included, with platelet dysfunction the most common cause of haemorrhagic syndrome in 17 of them. A coagulation factor deficiency has been described in four diseases. Six diseases expose patients to a risk of severe bleeding. For each genetic disorder, we detailed the mechanism of haemostasis dysfunction and the haemostasis abnormalities that may be observed.

Recognising haemostatic abnormalities in children with genetic diseases allows for more effective clinical management. Systematic coagulation screening is recommended for all patients with the syndromes discussed in this review.