Unmet Needs in Diagnosis and Treatment of Glanzmann’s Thrombasthenia (GT): Perceptions of US Hematologists and Nurses

INTRODUCTION: GT is a rare (~1:1 million) congenital platelet disorder characterized by a deficiency in or abnormality of GPIIb/IIIa and by predominantly mucocutaneous bleeding. Platelets are used to treat severe bleeding in individuals with GT and prevent bleeding during surgery; however, anti-platelet antibodies and/or refractoriness can occur. Few data exist on how and where US patients with GT receive care or how GT impacts patients and families. This first of its kind survey aims to capture healthcare professional (HCP) experience and perspectives on GT care.

METHODS: An April 2014 web-based quantitative survey (~45 min) was distributed to 2280 HCPs including all 561 on the Center for Disease Control (CDC) hemophilia treatment center (HTC) list. Respondents had to be actively involved with the treatment of bleeding disorders.

RESULTS: For 1726 successfully delivered emails, response rate was 8.7%.By target, 75 were physicians (9 self-classified as hematology only and 66 as hematology/oncology) and 75 were nurses (50 nurses, 25 nurse practitioners). The majority treated both adults and children; median 13 GT patients per center. Only 5% (7 of 21 CDC list respondents) reported working at federally-funded HTCs, with 41% from non-federally funded HTCs; the rest (54%) reported not being affiliated with an HTC. HCPs reported typical presentations including gum/mouth bleeds (67%), skin bleeds/bruising (66%), epistaxis (61%), and/or menorrhagia (39%). Mean (median) reported time to hematologist referral after first bleed was 18.4 (6) months (23% <3 months); referrals were most commonly from internists (27%), pediatricians (22%), or the emergency room (ER; 18%). Mean (median) time from first bleed to confirmed diagnosis was 22.1 (10) months (19% < 3 months); half reported that the diagnosis is typically made before age 12 years. Confirmatory tests included platelet aggregometry (86%) and/or flow cytometry (68%) and was most typically performed in the hematologist’s lab (46%), commercial lab (43%), or hospital/ER (32%).

HCPs reported that 20% of bleeds received no treatment and 50% required some systemic (IV) treatment and/or transfusion (26% platelets only). In the prior 5 years, 81% of patients received platelets, 70% antifibrinolytics, and 36% of menstruating females received hormonal therapy. HCPs reported 75% of their patients received a pRBC transfusion at some point. Satisfaction with response to platelets (1-10, 10 = satisfied) was 7.3 (7). Transfusions are typically given in the HTC or hematologist’s hospital (86%), at a hospital near the patient’s house (63%) or at an infusion center (63%). HCPs reported 16% of patients were refractory and 32% had antibodies.

HCPs reported that, for pediatric patients, 89% have issues at school and 87% have issues with activities/sports (71% limited participation). Most (65%) reported that children with GT have issues with peers and friends. Having children with GT also impacts parents’ work (66%), most commonly from missed time at work (31%). Emotional stress was also emphasized as an issue facing families. For adult patients, GT impacts activities/participation in sports (82%) and they face issues with employment (62%), most commonly from missed time (22%). HCPs reported relationships are impacted in 42% of patients. HCPs most frequently refer patients and families to hemophilia.org (63%) and curegt.org (56%) for additional information.

HCPs indicated from their perspective quality of life for patients with GT and their families could be improved with increased focus on diagnosis/treatment (45%) and education/awareness (29%). Nurses tended to emphasize addressing education and the emotional and social impact on patients with GT; hematologists focused more on clinical aspects. Respondents noted it was most important that referring HCPs know how/when to refer to specialists (44%) and the importance of early diagnosis (36%).

CONCLUSION: These data provide insights into the care of GT and other bleeding disorders in the US. While the World Federation of Hemophilia reported 103 US GT patients receiving their care in HTCs, the type of HCPs who responded here and patient/caregiver survey results suggest many GT patients receive care outside of the federally funded HTC network. Further cross-sectional and prospective studies may improve understanding of refractoriness/antibodies and psychosocial impact on patients and families.