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ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2026

Therapeutic plasmapheresis in a young infant with severe hypertriglyceridemia: a case report.

Abhijit Choudhary, Arya James, Urmila Dahake, Soumya Das, Pinjari Chinigi Sab, Shikha Jain, Akash Bang, Meenakshi Girish

Abstract readCase Reports
In one paragraph

Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Abhijit ChoudharyDepartment of Paediatrics, All India Institute of Medical Sciences, Maharashtra, India.
Arya JamesDepartment of Paediatrics, All India Institute of Medical Sciences, Maharashtra, India.
Urmila DahakeDepartment of Paediatrics, All India Institute of Medical Sciences, Maharashtra, India.
Soumya DasDepartment of Transfusion Medicine, All India Institute of Medical Sciences, Maharashtra, India.
Pinjari Chinigi SabDepartment of Transfusion Medicine, All India Institute of Medical Sciences, Maharashtra, India.
Shikha JainDepartment of Paediatrics, All India Institute of Medical Sciences, Maharashtra, India.
Akash BangDepartment of Paediatrics, All India Institute of Medical Sciences, Maharashtra, India.
Meenakshi GirishDepartment of Paediatrics, All India Institute of Medical Sciences, Maharashtra, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial lipoprotein lipase (LPL) deficiency typically occurs during childhood and is characterized by severe hypertriglyceridemia, accompanied by episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. The clearance of chylomicrons from plasma is impaired, causing triglyceride accumulation and giving the plasma a milky/lactescent/lipemic appearance. Symptoms typically resolve when total dietary fat is restricted to 20 g/d. Acute management focuses on maintaining triglyceride levels using insulin, plasmapheresis, blood exchange transfusion, and heparin, although few of these interventions have proven effective in infants. Here, we report a rare case of severe hypertriglyceridemia in a 40-d-old infant who presented with respiratory distress, xanthoma, hepatosplenomegaly, and lipemic samples. Plasmapheresis resulted in a reduction in triglyceride levels and clinical improvement, and further evaluation confirmed a diagnosis of LPL deficiency. Familial LPL deficiency can occur during early infancy, with life-threatening complications. A consensus on the acute management of hypertriglyceridemia in the pediatric population needs to be meticulously established after exploring possible treatment strategies, including plasmapheresis.

Indexed as

familial lipoprotein lipase deficiencyhyperlipidemiahypertriglyceridemiainfantplasmapheresis

Identifiers

PMID41923786
PMCPMC13038378

What Socratic holds

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LicenceCC BY-NC-ND
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