Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Area of Science:

• Pediatric Hematology
• Clinical Genetics
• Hemostasis and Thrombosis

Background:

• Children with genetic diseases face heightened risks of bleeding complications.
• Identifying haemostatic disorders is vital for preventing and managing haemorrhagic events.
• Genetic syndromes can significantly predispose children to bleeding diathesis.

Purpose of the Study:

• To offer a comprehensive review of genetic syndromes causing bleeding in children due to haemostatic dysfunction.
• To consolidate information on the clinical and laboratory findings of these syndromes.
• To elucidate the mechanisms of haemostasis impairment in affected pediatric populations.

Main Methods:

• Utilized the Human Phenotype Ontology to identify relevant genetic syndromes.
• Conducted a thorough literature review to gather data on clinical and laboratory findings.
• Summarized haemostatic abnormalities associated with each identified genetic syndrome.

Main Results:

• Eighteen genetic diseases associated with bleeding diathesis were identified.
• Platelet dysfunction was the most frequent cause of bleeding in 17 diseases.
• Coagulation factor deficiencies were noted in four diseases, with six posing a severe bleeding risk.

Conclusions:

• Early recognition of haemostatic abnormalities in pediatric genetic diseases improves clinical management.
• Systematic coagulation screening is advised for children diagnosed with these specific genetic syndromes.
• Understanding these links aids in targeted preventive strategies and risk mitigation.