Disease severity and family history appear to play a significant role in the age of diagnosis for women with congenital bleeding disorders, according to recent survey findings.
A European multinational survey has identified delays in diagnosis and other challenges faced by girls and women with congenital bleeding disorders.
“The aim of this survey, carried out by the European Haemophilia Consortium (EHC), was to provide the patient voice of their lived experiences with congenital bleeding disorders,” wrote Declan Noone of the EHC in Brussels, and colleagues. The findings were published in Haemophilia.
The researchers conducted a survey of 709 girls and women with various congenital bleeding disorders from 32 countries, primarily located in Western Europe. Most respondents were adults, with just 3.8% under age 18 years.
The questionnaire was administered to eligible patients at various hemophilia treatment centers. More than half of respondents were hemophilia carriers and nearly 28% had von Willebrand disease.
The survey explored the effects of bleeding disorders on several activities of daily life, including symptoms, physical activity, and reproductive ability.
After analysis, the researchers found that overall the median age at diagnosis of a bleeding disorder was 16 years (range, 2-28 years) among respondents. Having a family history of a bleeding disorder resulted in a significantly younger median age at diagnosis (6 years; range, 0-26 years) versus those without a family history (17 years; range 5-28 years; P less than .01).
Disease severity also appears to play a role. Women with type 3 von Willebrand disease had a median age of diagnosis of 1 year old, compared with 19.3 years old for type 2 disease (P less than .01).
Respondents reported a substantial disease burden on activities of daily life, especially for women with platelet function disorders and other factor deficiency.
Women without a known family history of a bleeding disorders reported a significantly greater impact on their physical life, social life, and romantic life (P less than .01 for all domains), compared with women with a family history of bleeding disorders.
There were no statistically significant differences across types of bleeding disorders on questions related to reproductive life. However, the researchers reported that “surprisingly,” 25% of women reported that having a bleeding disorder “has had a severe impact on their decision or has prevented them from having children.
“The bleeding symptom of biggest impact on daily life is [heavy menstrual bleeding], reported by 55% of women,” the researchers wrote.
The researchers acknowledged that a key limitation of the survey was the composition of the sample: predominantly of patients from Western Europe. As a result, the findings may not be generalizable to all patient populations.
No funding sources were reported. The authors reported having no conflicts of interest.
SOURCE: Noone D et al. Haemophilia. 2019 Apr 29. doi: 10.1111/hae.13722.