• Patients with hTTP report worse fatigue, depression, anxiety, and cognition vs the US population, and similar to or worse than other chronic disorders. • Longitudinal measurements showed that these impairments are persistent, highlighting the sustained psychological and cognitive impact of hTTP. Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare inherited blood disorder caused by severe ADAMTS13 deficiency due to biallelic ADAMTS13 mutations, leading to life-threatening complications across the lifespan. Its impact on long-term psychological, cognitive, and overall well-being remains poorly understood. This study evaluated patient-reported outcomes (PROs) in individuals with hTTP, comparing them to the general United States (US) population and patients with other chronic conditions, and assessed changes over time. Patients enrolled in the International Hereditary TTP Registry completed Patient Reported Outcomes Measurement Information Systems (PROMIS) assessments of fatigue, depression, anxiety, cognitive function, and positive affect. Repeat assessments were conducted 6 months and 1 year after the first assessment to assess changes over time. Mean scores were compared to the US population using one-sample t-tests, while a repeated measures analysis of variance assessed changes over time. A literature search identified relevant comparison disorders. Twenty patients completed the baseline assessment, with 14 completing assessments at all three time points. At baseline, patients scored significantly worse than the US population on fatigue, depression, anxiety, and cognitive function but positive affect scores were similar. HTTP scores were similar to or worse than scores from patients with immune-mediated TTP and other chronic diseases. No significant changes were observed over time. In conclusion, HTTP is associated with persistent patient-reported fatigue, depression, anxiety, and cognitive dysfunction. These findings highlight the chronic psychological impact of the disease and support the need for ongoing monitoring and early interventions to improve overall health and well-being.
Borogovac et al. (Sun,) studied this question.