Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study

Autor: Linda C. Hemphill, Raul D. Santos, Dirk J. Blom, Seth J. Baum, Andres Digenio, Ewa Karwatowska-Prokopczuk, Joseph L. Witztum, Ovidio Muñiz-Grijalvo, Louis O'Dea, Karren R Williams, Veronica J. Alexander
Rok vydání: 2018
Předmět:
0301 basic medicine
Adult
Male
Chylomicronemia
medicine.medical_specialty
Endocrinology
Diabetes and Metabolism
Natural history
Oligonucleotides
Hyperlipoproteinemia
030204 cardiovascular system & hematology
Cohort Studies
03 medical and health sciences
Lipoprotein lipase deficiency
Young Adult
0302 clinical medicine
Internal medicine
Internal Medicine
medicine
Humans
Young adult
Hypertriglyceridemia
Nutrition and Dietetics
business.industry
Extremely restrictive low-fat diet
Metabolic disorder
Middle Aged
medicine.disease
Acute pancreatitis
030104 developmental biology
Treatment Outcome
Population study
Pancreatitis
lipids (amino acids
peptides
and proteins)
Female
Hyperlipoproteinemia Type I
Familial Chylomicronemia Syndrome
DIETA COM RESTRIÇÃO DE GORDURAS
Cardiology and Cardiovascular Medicine
business
Body mass index
Zdroj: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
ISSN: 1933-2874
Popis: Background Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder caused by mutations in lipoprotein lipase (LPL) or genes required for LPL functionality and is characterized by hyperchylomicronemia that results in recurrent episodes of acute pancreatitis. Owing to the rarity of FCS, there are few case series describing the phenotypic variability in FCS patients in detail. Objective To provide baseline characteristics in the largest study population to date of patients with FCS. Methods We analyzed baseline demographic and clinical characteristics of adult FCS patients in the phase 3 APPROACH study of volanesorsen sodium (antisense inhibitor of apolipoprotein C-III). Results Sixty-six patients were included in the analysis. Mean (SD) age was 46 (13) years; and mean body mass index was 24.9 (5.7) kg/m2. We identified causal mutations in 79% (52) of patients, with LPL mutations accounting for 62% (41) of cases. Median age at diagnosis was 24 years, 54% were females, and 81% were Caucasian. All patients followed a low-fat diet, 43% received fibrates, 27% fish oils, and 21% statins. Median fasting triglyceride levels (P25, P75) were 1985 (1179, 3047 mg/dL). Overall, 76% of patients reported ≥1 lifetime episode of acute pancreatitis; 23 patients reported a total of 53 pancreatitis events in the 5 years before enrollment. Conclusions Our data emphasize the severe hypertriglyceridemia characteristic of FCS patients despite restrictive low-fat diets and frequent use of existing hypolipemic therapies. Acute pancreatitis and recurrent acute pancreatitis are frequent complications of FCS. Diagnosis at an older age suggests likely underdiagnosis and underappreciation of this rare disorder.
Databáze: OpenAIRE
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