ECE2019 Poster Presentations Diabetes, Obesity and Metabolism 3 (112 abstracts)
IN-FOCUS France: an epidemiological survey on severe hypertriglyceridaemiae assessing the comparative burden of illness of familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS)
Philippe Moulin 1 , Benoît Bouquillon 2 , René Valero 3 , Michel Krempf 4 , Vincent Rigalleau 5 , Olivier Ziegler 6 , Bruno Verges 7 , Jean-Michel Lecerf 8 , Edouard Verdier 2 , Sybil Charriere 1 & Eric Bruckert 9
1CHU de Lyon, Lyon, France; 2Carely (SARL), Lille, France; 3CHU de Marseille, Marseille, France; 4CHU de Nantes, Nantes, France; 5CHU de Bordeaux, Bordeaux, France; 6CHU de Nancy, Nancy, France; 7CHU de Dijon, Dijon, France; 8CHU de Lille, Lille, France; 9CHU de la Pitié Salpêtrière, Paris, France.
Background: Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG), which have major effects on both physical and mental health, and a markedly increased risk of acute pancreatitis. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide. To date, there have been no systematic efforts to characterize and compare the impact of chylomicronemia on FCS and MCS patients’ lives. In particular, the impact of FCS and MCS on the burden of illness (BoI) and quality of life (QoL) has not been fully described in the literature.
Methods: IN-FOCUS was a comprehensive web-, paper- and phone-based research survey of patients with either FCS or MCS, focused on capturing the BoI and impact on QoL associated with FCS and MCS. Forty-three (43) patients from France participated, twenty-two (22) of whom were diagnosed with FCS and twenty-one (21) were diagnosed with MCS. Patients described multiple symptoms spanning across physical, emotional and cognitive domains.
Results: Nearly all patients reported a major impact on BoI and QoL, with a slightly larger impact reported on each item in the FCS group. The difference between groups was statistically significant regarding the impact of the disease on patients’ career choice and employment status which was reported as being significant for 33.3% of MCS patients, but for as many as 81.8% of FCS patients. In terms of symptoms and comorbidities, there were significant differences between both groups most notably in the incidence of cutaneous lesions (31.8% in the FCS group vs. 0% in the MCS group), pancreatic pain (45.4% in the FCS group vs. 9.5% in the MCS group), and chronic hypertriglyceridaemic pancreatitis (40.5% in the FCS group vs. 14.6% in the MCS group). Moreover, 59% of FCS patients had been hospitalized for acute pancreatitis on average 10 times in their lifetime, whereas 14.3% of MCS patients had been hospitalized for the same, on average only slightly over 1 time in their lifetime.
Conclusion: Both MCS and FCS imparts a considerable burden across multiple domains, with a significantly higher reported burden for FCS over MCS. The results were consistent with previous research findings.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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