Dietary therapy and challenges for familial chylomicronemia syndrome
Familial chylomicronemia syndrome(FCS)is a rare autosomal recessive genetic disorder caused by variations in the LPL gene,which codes for lipoprotein lipase,or in genes coding for proteins that regulate lipoprotein lipase activity.Markedly elevated plasma triglyceride(TG)levels(typically＞10mmol/L),along with the resulting rash yellow tumor,retinal hyperlipidemia,splenomegaly,recurrent abdominal pain,and pancreatitis attacks are the main clinical manifestations of FCS.Among them,pancreatitis is the primary life-threatening complication and the main cause of reduced quality of life,with its incidence and severity clearly related to plasma TG levels.Conventional lipid-lowering drugs are typically ineffective in FCS patients.Currently,a long-term strict very low-fat diet is the main treatment for this disease.This usually involves reducing dietary fat intake to 10％-15％of total energy needs while ensuring adequate intake of essential fatty acids.Dietary management can rapidly lower plasma TG levels and effectively prevent complications related to hypertriglyceridemia.However,maintaining and adhering to such a strict very low-fat diet regimen over the long term remains challenging.Surveys have shown that a large part of patients face psychological and social support issues.Therefore,the treatment of FCS requires interdisciplinary collaboration in pharmacology,genetics,nutrition,psychology,and other fields.
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