A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites / 中国当代儿科杂志

This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.

Characteristics of familial hyperlipoproteinemia in Lanzhou / 国际检验医学杂志

Objective To investigate familial hyperlipoproteinemia and the features of familial hyperlipoproteinemia in Lanzhou . Methods Data were from previous studies on the subject .Families of hyperlipoproteinemia were screening ,questionnaires were col-lected ,physical examination and laboratory data of family members were also colleted to analysis the characteristics of familial hy-perlipoproteinemia .Results A total of 39 familial hyperlipoproteinemia families were enrolled in the study ,including 280 family members .There were 15 core families ,11 single-parent families ,and 13 orphaned families .There were 6 familial hypercholesterol-emia families ,9 familial hypertriglycerides families ,24 mixed familial hyperlipidemia families .The children of the first generation ac-counted for 63 .2% of the total number of people enrolled in the study ,the father generation accounted for 14 .3% ,the children of the second geration accounted for 22 .5% .Conclusion In the survey ,the most common type of familial hyperlipidemia was mixed familial hyperlipidemia .The father generation was majority .The member of core families was less than incomplete families .