Impact of Glanzmann’s Thrombasthenia (GT): Perceptions from US Patients and Parents

INTRODUCTION: Patients with GT, a rare congenital platelet disorder due to ­an abnormality of glycoprotein IIb/IIIa expression, experience frequent and severe mucocutaneous bleeding. Little is known about how and where US GT patients receive care, or about its impact on patients and their families. This first survey is aimed to capture their experience and perspectives.

METHODS: A web-based structured quantitative survey (~45 min) was distributed in 1Q 2014 to adult patients (≥18 years old) and parents of affected children (<18 years) in the US using the Glanzmann’s Research Foundation mailing list and Facebook^® page. Results are reported as mean (median) unless noted.

RESULTS: Respondents included 14 adults with GT (mean age 39.3 years, range 19-55, 86% female) and 9 parents (mean age 42.1 years, range 29-54, 89% female) of children with GT (mean age 9.3 years, range 1-17, 33% female). Respondents had post-high school education (92%), were employed (65%) or students (13%), and had health insurance (87%).

Age at diagnosis was 6.2 (2) years and was higher for adults (9.3 [5]) than children (1.7 [0.5]). Frequent presenting symptoms were skin bleeding/bruising (83%), gum/mouth/tooth bleeding (46%), epistaxis (58%), and abnormal menstrual cycles (21%). Time from first bleed to hematology referral was 23 (5) months (38% <3 months); most patients were referred by pediatricians (54%) or internists/family practitioners (21%). Time from first bleed to definitive diagnosis was 33 (13) months (21% <3 months). Parents reported slightly shorter times for both. Confirmatory testing was most often in the hematologists’ lab (58%) or hospital/ER (38%).

Treatment team included hemophilia treatment center (HTC)-based hematologist (50%), non-HTC hematologist/oncologist (41%), pediatrician (38%), OB/GYN (33%), internist (25%) and ENT (17%). Most bleeds required none (59%) or local (25%) treatment. Nearly all patients (83%) received a transfusion at some point (67% blood; 75% platelets); 70% received it at a hospital near home. Most patients (78%) reported platelet transfusions controlled bleeds in the past; 56% reported platelet transfusions controlled bleeds currently. Nearly half (44%) were told they were “refractory”; 50% were told they were tested for antibodies and of those tested, 56% were told they had “antibodies” to platelets. Median perceived disease control (0-10 scale, 10=very well controlled) was 6.83 (adults 6.33, parents 7.67).

Most adults (93%) and majority of children (67%) found GT impacted school, with issues including absence, bullying, and falling behind. Both adults (87%) and children (78%) reported GT impacted participation in activities/sports in childhood due to restrictions, triggered bleeds, and embarrassment. Half of the adult patients reported still being impacted with activities. GT also impacted relationships with friends and peers for children (56%) and adults (40% during childhood, 20% currently); issues included being teased, marginalized, and called “abused” due to constant bruising. Parents reported having a child with GT impacted their (44%) or their spouses (22%) employment, including frequent absences resulting in reprimands and terminations; 27% of adults reported impacts on employment including fatigue, bleeds, and lost work days. Most respondents were very/quite satisfied with support of spouses (79%), family (76%), and friends (83%), but less so with support of schools (56%) and employers (50%).

Hematologists (91%) and websites (91%) were the most common sources of information. Most useful (1-5, 5=most useful) sources of information were other patients (5), other caregivers (5), nurses (4.2), hematologists (4.1), websites (4.1) and national organizations (3.6). Many noted major consumer organizations related to the bleeding disorders population have little or no information on GT. Looking to the future, adults and parents desired increased education of the medical community, more immediate treatment in the ER, focus on pre-activity treatment to prevent bleeding, and improved coordination of care.

CONCLUSION: While limited in scope, these data provide directional insight into the burden of living with or caring for one or more children with GT. In particular, the psychosocial impact of frequent mucocutaneous bleeding in childhood deserves further study. These results highlight the need for better resources for families and healthcare providers.