Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects

Area of Science:

• Hematology
• Genetics
• Internal Medicine

Background:

• Congenital platelet defects (CPDs) are a group of inherited bleeding disorders.
• Accurate phenotypic characterization is crucial for diagnosing CPD subtypes and understanding prognostic implications.

Purpose of the Study:

• To analyze the bleeding phenotype and diagnostic characteristics of a large cohort of adult patients with confirmed CPDs.
• To identify factors associated with a more severe bleeding phenotype in CPD patients.

Main Methods:

• Retrospective analysis of 96 adult patients with confirmed CPDs.
• Classification of patients into various CPD subtypes including Glanzmann thrombasthenia, Bernard-Soulier syndrome, dense granule deficiency, ADP/TxA2 pathway defects, isolated thrombocytopenia, and complex abnormalities.
• Assessment of bleeding phenotype using the ISTH-BAT bleeding score and detailed analysis of bleeding symptom frequency and severity.

Main Results:

• The median ISTH-BAT bleeding score was nine.
• Heavy menstrual bleeding (80%), post-partum hemorrhage (74%), post-operative bleeds (64%), and post-dental extraction bleeds (57%) were the most frequent bleeding symptoms.
• Central nervous system (CNS) bleeds (2%) and urinary tract bleeds (4%) were rare but severe.
• Glanzmann thrombasthenia and female sex were significantly associated with a more severe bleeding phenotype.

Conclusions:

• Phenotypic characterization of CPDs is essential for clinical management.
• Heavy menstrual bleeding and surgical/procedural bleeding are common in adult CPD patients.
• Glanzmann thrombasthenia and female sex are independent predictors of increased bleeding severity in congenital platelet disorders.