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Delayed diagnosis, poor quality of life observed in familial chylomicronemia syndrome
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Patients with familial chylomicronemia syndrome often cycle through several physicians before finally receiving a proper diagnosis, and they report frequent, sometimes debilitating symptoms that lead to reduced quality of life, according to an interim analysis of U.S. survey data.
“Familial chylomicronemia syndrome is a rare genetic disorder where patients have significantly diminished activity or presence of lipoprotein lipase, the enzyme responsible for metabolism of serum triglycerides,” Michael Davidson, MD, FACC, FACP, clinical professor and director of preventive cardiology at the University of Chicago Pritzker School of Medicine, told Endocrine Today. “Current literature focuses mainly on the physical symptoms of FCS, including the risk of acute pancreatitis, but the holistic burden, including cognitive and psychosocial domains from the patients’ perspective, has not been fully characterized. The Investigation of Findings and Observations Captured in Burden of Illness Survey in FCS Patients (IN-FOCUS) is the first study of this size to capture patient-reported burden of disease. Based on these interim survey results, it is apparent that the burden of FCS expands well beyond the physical aspects captured in the literature, and also includes a range of psychosocial, emotional and cognitive burdens.”
Davidson and colleagues analyzed data from 60 U.S. adults with familial chylomicronemia syndrome (FCS) participating in the Investigation of Findings and Observations Captured in Burden of Illness Survey in FCS Patients (IN-FOCUS). Patients completed a 45-minute, web-based survey between June and November 2016 that assessed burden of illness and quality of life associated with the condition. Patients were shown a list of 41 potential symptoms associated with FCS in physical, emotional and cognitive domains and asked to indicate their typical, average symptoms within the past 12 months, including severity and frequency.
Participants reported seeing a mean of five physicians for FCS-related symptoms before being diagnosed; 67% reported that their symptoms were initially misdiagnosed before a correct diagnosis of FCS. The most common misdiagnoses were acute pancreatitis of unknown cause (48%) and hypertriglyceridemia (45%)
“The proportion of patients who received a misdiagnosis for their FCS symptoms underscore the lengthy journey to a diagnosis and the burden shouldered by the patients and caregivers,” the researchers wrote, adding that “due to the heterogeneous nature of FCS and the limited guidance in the literature on diagnostic criteria, it is not surprising that physicians who encounter FCS may not be well-versed on the diagnosis of this rare condition.”
Within the cohort, 21% of patients reported experiencing at least 10 symptoms when their FCS symptoms were at their worst or most severe; the five most commonly reported physical symptoms were bloating (35%), generalized abdominal pain (33%), asthenia (33%), fatigue (27%) and indigestion (23%). The most commonly reported cognitive symptoms were difficulty concentrating (18%), “brain fog” (17%), forgetfulness (10%), impaired judgment (8%) and recent memory loss (8%).
Reported emotional symptoms included uncertainty regarding an attack of pain or acute pancreatitis at any time (33%), anxiety, fear or worry (30%), and feeling out of control or powerless because of FCS (25%). Nearly all patients reported at least one FCS-related comorbidity; acute pancreatitis was the most commonly reported (42%).
The condition also affected patient employment status, according to the researchers. Most respondents reported that FCS influenced their ability to fulfill their responsibilities at school or work (91%), whereas 68% of full- or part-time employed patients reported taking time off work because of FCS, missing a mean of 30 days over 12 months.
“To put this in perspective, the US Bureau of Labor Statistics notes an average absence of 4-5 days per calendar year for workers overall,” Davidson said. “Of the 60 respondents, only 8% of patients responded that FCS did not interfere with their ability to fulfill responsibilities at school/work.”The researchers wrote that the results demonstrate a “clear, unmet need” for more effective treatment options.
“These important findings indicate two major areas of unmet need for people living with FCS,” Davidson said. “Clearly, there is a critical need for new and more effective management options for FCS patients. Beyond this, we must also work to improve both patient and clinician awareness of the impact of FCS on patient health and daily activities, and work to improve time-to-diagnosis and build a management paradigm that reflects these factors.”– by Regina Schaffer
Disclosure: Akcea Therapeutics funded this study. Davidson reports being a scientific advisory board member for Abbott, Amgen, AstraZeneca, Merck, Regeneron and Sanofi. Please see the full study for the other authors’ relevant financial disclosures.
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