关键词: 甘油三酯, 脂蛋白脂酶, 乳糜微粒, 胰腺炎, 饮食治疗

Abstract: 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.

Key words: triglycerides, lipoprotein lipase, chylomicrons, pancreatitis, dietary therapy