Lipid Status And Treatment In 163 Patients Of Glycogen Storage Disease Type ?a

Objective Glycogen storage disease type la(GSD la,MIM:232200)is an autosomal recessive metabolism disease caused by deficiency of the glucose-6-phosphatase(G6Pase).GSD?a patients are characterized by fasting hypoglycemia,hepatomegaly,hyperlipidemia and lactic acidemia.This study aims to review lipid status in patients with GSD?a,explore the lipid treatment goals and preferable lipid-lowering therapy.Methods The clinical data of 163 patients of GSD type la were analyzed.These patients referred to the Pediatric Department of Peking Union Medical College Hospital from July 1985 to April 2017.Diet control,cornstarch and sometimes lipid-lowering drugs were prescribed to maintain normal blood glucose and lipid.We compared the lipids' levels before and after treatment,analyzed some of the complications of hyperlipidemia.We explored the relationship between TC and TG.Results 163 cases of GSD?a patients were from 160 families,including 98 males and 65 females,age of disgnosis was 4 months to 38 years old,the follow-up time varied from 0 to 29 years.Lipid metabolism in patients without treatment was characterized by elevated triglycerides(TG)and total cholesterol(TC).Treatment combined diet control with cornstarch could make an improvement,but the blood lipids could not be completely normal.The difference of TC and TG was significant before and after treatment of atorvastatin.One patient presented with acute pancreatitis,no patients showed ischemic cardiovascular and cerebrovascular events.7/50 of patients had abnormal carotid ultrasound reports.7/40 of patients presented with abnormal transcranial Doppler color ultrasound reports.TC was positively correlated with TG after treatment,TG=-2.86+1.63*TC.Conclusion Prevalence of dyslipidemia was high in GSD?a patients.Dietary intervention combined with cornstarch treatment and regular lipid-lowering drugs could maintain the majority of patients with normal TC,while triglycerides were difficult to maintain normal.Statins are preferable to fibrates.The positive correlation between TC and TG was observed.The management target of hyperlipidemia is normal TC,hypertriglyceridaemia is permissive within a certain range.The complications of hyperlipidemia need to be monitored...