新生儿期起病伴血性腹水的Ⅰ型高脂蛋白血症1例

doi:10.7499/j.issn.1008-8830.2307113

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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.

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	CHEN Yuan-Yuan
	HU Li-Yuan
	ZHANG Ke
	ZHANG Xue-Ping
	CAO Yun
	YANG Lin
	WU Bing-Bing
	ZHOU Wen-Hao
	WANG Jin

Key words： Familial hyperlipoproteinemia Lipoprotein lipase deficiency LPL gene Neonate

Received: 31 July 2023

Cite this article:

CHEN Yuan-Yuan,HU Li-Yuan,ZHANG Ke et al. A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites[J]. CJCP, 2023, 25(12): 1293-1298.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2307113 OR http://www.zgddek.com/EN/Y2023/V25/I12/1293

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