Familial chylomicronemia syndrome associated with ‘considerable’ clinical, psychosocial burden
BOCA RATON, Fla. — Familial chylomicronemia syndrome is a rare metabolic disorder that is associated with “considerable” clinical and psychosocial burden for patients and caregivers, resulting in reduced quality of life due to restrictions and limitations on diet and activity, frequent hospital admissions and complications like acute pancreatitis.
At the American Society for Preventive Cardiology’s Congress on Atherosclerotic Cardiovascular Disease Prevention, Alan Brown, MD, from Advocate Lutheran General Hospital, Park Ridge, Illinois, and colleagues presented results of a study that assessed the clinical burden and psychosocial effects of familial chylomicronemia syndrome (FCS).
“FCS is a rare inherited lipid disorder that is characterized by severely high levels of triglycerides and chylomicrons in the plasma. The impact of FCS includes acute physical manifestations (eruptive xanthoma, lipemia retinalis, hepatosplenomegaly) and potentially life-threatening recurrent acute pancreatitis, which frequently leads to chronic pancreatitis,” Brown and colleagues wrote in the study abstract.
Loss or reduced function of lipoprotein lipase is the most common cause of FCS.
Currently, in the United States, there is no therapy for treatment of FCS approved by the FDA. Recommendations include strict control of lifestyle factors and adherence to an ultra-low-fat diet (< 20 g per day), according to the researchers.
Brown and colleagues convened 10 adults (six men) with clinically or genetically diagnosed FCS in a face-to-face panel session, eight of whom were accompanied by a spouse or caregiver who could provide additional information.
The median age of the 10 patients was 48 years (range, 26-67). The median age at symptom onset was 15.5 years. The average plasma triglyceride level was 1,300 mg/dL, and the highest median value recorded was 10,500 mg/dL (range, 2,600-21,000).
Symptoms reported by the patients with FCS were primarily gastrointestinal, including abdominal pain, bloating, constipation, diarrhea and nausea; pain-related, including back pain, referred pain and headache; and fever. Abdominal pain and fatigue were the two most commonly reported symptoms. The incidence and frequency of symptoms increased with age, according to most of the patients.
The median number of acute pancreatitis episodes was 34 and the median number of hospitalizations due to acute pancreatitis was 17. The average length of hospitalization stay was 6.5 days.
Other commonly reported medical complications of FCS included anemia, fatty liver disease, gastric issues, hypocalcemia, hypokalemia, hypothyroidism, liver and/or spleen enlargement, liver cirrhosis, type 2 diabetes, and vitamin and mineral deficiencies. All of the patients with FCS in this study reported daily nausea and low-level abdominal pain. Pancreatic damage and memory loss were experienced by three patients. Additionally, in this study, seven patients required gallbladder removal.
Recommended adherence to an ultra-low-fat diet was also identified as a contributor to reduced quality of life in patients with FCS, according to the study. An ultra-low-fat diet is difficult to maintain, especially socially, Brown and colleagues noted.
According to other findings from the study, most patients reported frequent fatigue and inability to concentrate due to FCS, which can also have an effect on employment and job performance.
“Much of the psychosocial burden of FCS is associated with the diet and lifestyle changes imposed by this condition, which limit socialization and increase the burden on the family. ... There is a serious need for effective and less burdensome ways to control the symptoms of FCS and reduce the clinical and psychosocial burden of this condition,” Brown and colleagues wrote in the abstract.
The results of this study “may help build broader awareness of the impact of FCS and help ... develop more effective treatments,” the researchers concluded.
Brown A, et al. Abstract 131. Presented at: American Society for Preventive Cardiology Congress on Atherosclerotic Cardiovascular Disease Prevention; Sept. 16-18, 2016; Boca Raton, Fla.
Disclosure: Brown is an advisory board member of Amgen, AstraZeneca, IONIS/Akcea Therapeutics, Kowa Pharmaceuticals, Lilly, Merck, Pfizer and Regeneron; speaker’s bureau member of Amgen, Merck, Regeneron and Sanofi-Aventis; and has received remuneration for participating in this event/caregiver panel as a medical expert.