A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites.
10.7499/j.issn.1008-8830.2307113
- Author:
Yuan-Yuan CHEN
1
;
Li-Yuan HU
1
;
Ke ZHANG
1
;
Xue-Ping ZHANG
1
;
Yun CAO
1
;
Lin YANG
;
Bing-Bing WU
;
Wen-Hao ZHOU
1
;
Jin WANG
1
Author Information
1. Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102, China (Wang J, Email: drwangjin@fudan.edu. cn).
- Publication Type:Journal Article
- Keywords:
Familial hyperlipoproteinemia;
LPL gene;
Lipoprotein lipase deficiency;
Neonate
- MeSH:
Humans;
Infant;
Male;
Acute Disease;
Ascites;
Cholesterol;
Hyperlipoproteinemia Type I/genetics*;
Hyperlipoproteinemias;
Lipoprotein Lipase/genetics*;
Pancreatitis;
Triglycerides
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(12):1293-1298
- CountryChina
- Language:Chinese
-
Abstract:
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.
