Bleeding Phenotypes in Inherited Platelet Function Disorders: Insights From the ATHNdataset

Area of Science:

• Hematology
• Genetics
• Clinical Medicine

Background:

• Inherited platelet function disorders (IPFDs) are rare and diverse, presenting diagnostic and management difficulties.
• Glanzmann thrombasthenia (GT) and Bernard-Soulier syndrome (BSS) bleeding is known, but milder or unclassified IPFDs are poorly understood.

Purpose of the Study:

• To analyze bleeding phenotypes, treatment strategies, and diagnostic distribution of IPFDs in the U.S. using the ATHNdataset.
• To characterize clinical outcomes for patients with IPFDs from 2013-2022.

Main Methods:

• Retrospective cohort study utilizing the deidentified ATHNdataset.
• Analysis of clinical outcomes, bleeding events, laboratory data, treatments, and procedures for IPFD patients with active follow-up (2021-2022).

Main Results:

• Over 2300 individuals had IPFDs, with 81.6% classified as IPFD-other.
• Epistaxis, soft tissue, and oral bleeding were most common; intracranial hemorrhage and joint bleeds occurred in 8 and 82 patients, respectively.
• Elevated ISTH-BAT scores noted across subtypes, with antifibrinolytics being the most common treatment.

Conclusions:

• The study defines the clinical spectrum, treatment use, and diagnostic gaps in IPFDs.
• Emphasizes the critical need for enhanced diagnostic accuracy and improved care for patients with platelet function disorders.