Rare Diseases and Orphan Drugs

Introduction: Familial Chylomicronemia Syndrome (FCS), is a rare autosomal recessive disease characterized by extremely high serum triglycerides (TGs), carried in chylomicrons, which predisposes the patient to recurrent episodes of abdominal pain and risk of acute pancreatitis (AP). The physical, emotional, psychosocial and cognitive consequences of living with FCS are poorly understood and not documented in the literature.

Methods: The In-FOCUS web-based patient survey was undertaken to quantify the burden of illness and quality of life from the patient’s perspective.

Results: 14 adult FCS patients from 5 European countries completed the survey. The majority of patients (64.3%) reported that their disease adversely affected their life over the past 12 months; with their stress/anxiety level (64.3%), ability to socialize (57.1%), ability to travel for work or leisure (57.1%), their mental ability (53.8%), quality of sleep (50.0%), and their feeling of self-worth (50.0%) all impacted. Over the past 12 months, 42.9% of patients had to take an average of 10.8 days off work because of problems related to FCS. 58.3% of patients felt their disease had influenced their decision on whether to have children, or how many children to have. 57.1% of patients reported feeling a burden to those around them because of their FCS.

Conclusions: FCS imparts a marked burden to the patient which extends beyond the recognized physical symptoms.