Sociodemographic, Clinical, and Psychosocial Characteristics of People with Hemophilia in Portugal: Findings from the First National Survey

Abstract

Hemophilia is a rare genetic bleeding disorder associated with pain, impaired functionality, and decreased quality of life (QoL). Several studies have focused on patient-reported outcomes of people with hemophilia (PWH) worldwide, but no such data are available for Portugal. This survey aimed to describe sociodemographic, clinical, and psychosocial characteristics of PWH of all ages in Portugal. Questionnaires were answered by self-report or by parents of children with hemophilia (proxy version). Variables assessed were sociodemographic and clinical, physical activity patterns, pain, functionality (HAL/PedHAL), QoL (A36 Hemofilia-QoL/CHO-KLAT), anxiety and depression (PROMIS), and illness perceptions (IPQ-R). One-hundred and forty-six PWH answered the survey: 106 adults, 21 children/teenagers between 10 and 17 years, 11 children between 6 and 9 years, and 8 children between 1 and 5 years. Most participants had severe hemophilia (60.3%) and type A was most commonly reported (86.3%). Bleeding episodes, joint deterioration, and pain were very prevalent, with the ankles and knees being the most affected joints, as illustrated by HAL/PedHAL scores. The A36 Hemofilia-QoL assessment showed moderate QoL (96.45; 0-144 scale) and significant anxiety and depression symptoms were found in 36.7 and 27.2% of adults, respectively. CHO-KLAT global score (0-100 scale) was 75.63/76.32 (self-report/ proxy). Concerning hemophilia-related illness beliefs, a perception of chronicity and symptoms unpredictability was particularly prominent among adults and children/ teenagers. This survey provided a comprehensive characterization of Portuguese PWH, including the first report of psychosocial characteristics. The findings allow for a deeper understanding of life with hemophilia in Portugal and the identification of relevant health care and research needs.

Emotional distress in haemophilia: Factors associated with the presence of anxiety and depression symptoms among adults

“…Of these, 500 PWH were reached by mail from October 2016 to May 2017 to complete a survey concerning socio‐demographic, clinical and psychosocial characteristics of PWH, which was returned by 146 participants (29.2% return rate). More detailed information concerning survey procedure and patient recruitment can be found elsewhere . From the 106 adults returning the survey, 4 were excluded due to missing data on the anxiety or depression measures, leaving 102 participants in the final sample.…”

“…More detailed information concerning survey procedure and patient recruitment can be found elsewhere. 16 From the 106 adults returning the survey, 4 were excluded due to missing data on the anxiety or depression measures, leaving 102 participants in the final sample.…”

Haemophilia A: health and economic burden of a rare disease in Portugal

“…One hundred and forty-six males with haemophilia A or B answered the survey: 106 adults, 21 children between 10 and 17 years, 11 children between 6 and 9 years and 8 children between 1 and 5 years. Further details about the survey are provided elsewhere [27].…”

A new measure to assess pain in people with haemophilia: The Multidimensional Haemophilia Pain Questionnaire (MHPQ)

“…This was an observational and longitudinal prospective study conducted among PWH who participated in the first haemophilia survey implemented in Portugal [44], which included male participants with haemophilia A or B of all ages. Exclusion criteria were inability to read and write or to consent voluntary participation.…”

“…Informed consent was obtained from the participants or legal guardians. More detailed information concerning survey procedure and patient recruitment can be found elsewhere [44].…”