Symptom and comorbidity burden in familial chylomicronemia syndrome: Impact on quality of life.

BACKGROUND

Familial chylomicronemia syndrome (FCS) is a severe, life-threatening genetic disorder resulting from pathogenic variants in genes involved in lipoprotein lipase (LPL) function, including LPL, APOC2, APOA5, GPIHBP1, and LMF1.

OBJECTIVE

This study aimed to assess the quality of life (QoL) of patients with FCS and explore the relationship between clinical symptoms, comorbidities, and QoL.

METHODS

The study was conducted over 12 months and involved genetically confirmed patients with FCS and healthy controls in Saudi Arabia. Data were collected using a structured questionnaire and the validated Arabic version of the PedsQL 4.0 Generic Core Scale. Statistical analyses included descriptive statistics, the Mann-Whitney U test for comparisons between patients with FCS and healthy controls, and Fisher's exact test for categorical variables. A P value of <.05 was considered statistically significant.

RESULTS

Twenty-eight patients with FCS and 142 controls participated. Commonly reported symptoms among patients with FCS included stomach bloating (25%), persistent stomach pain (21%), nausea (18%), xanthomas (21%), and anxiety related to pancreatitis (39%). Comorbidities such as chronic pancreatitis (29%), vision problems (18%), weakness (14%), and eating disorders (11%) were also observed. Patients with frequent stomach pain (P = .002), bloating (P = .016), and nausea (P = .044) were significantly more likely to have comorbidities. In addition, xanthomas (P = .038) and anxiety related to pancreatitis (P = .049) were more prevalent in patients with comorbidities. QoL was significantly lower in patients with FCS with comorbidities (median score 86) compared with those without (median 92, P = .019), particularly in the physical health domain (P = .006).

CONCLUSION

FCS significantly affects QoL, especially when comorbidities are present. Symptom burden, particularly gastrointestinal symptoms, is closely linked to comorbidities and poorer QoL. These findings highlight the need for symptom-focused care and early comorbidity management to improve patient outcomes.