The enigma of persistent hypertriglyceridemia: A case report

Dhaliwal, Armaan; Ravi, Soumiya; Bains, Kanwal; Potharaju, Anil; Shah, Tasneem

doi:10.1002/ccr3.5610

Clinical Case Reports

2022

DOI: 10.1002/ccr3.5610

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The enigma of persistent hypertriglyceridemia: A case report

Armaan Dhaliwal

Soumiya Ravi

Kanwal Bains

et al.

Abstract: A patient with a history of Mandibular hypoplasia, Deafness, Progeroid Features Associated Lipodystrophy Syndrome (MDPL), familial lipodystrophy presented with hypertriglyceridemia induced pancreatitis with triglycerides in the 3000s. This lipodystrophy occurs due to a mutation in the POLD1 gene (DNA polymerase delta 1). MDPL, hypertriglyceridemia, pancreatitis, POLD1.

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2024

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Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report

Sekiguchi,

Kinoshita,

Sakai

et al. 2024

JA Clin Rep

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Background Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder that presents unique challenges for anesthetic management due to its multisystemic manifestations. This report outlines the anesthetic considerations for MDPL patients based on our case experience. Case presentation A 15-year-old male with MDPL syndrome underwent testicular extraction under general anesthesia. Insertion of a peripheral venous catheter was challenging due to scleroderma-like skin. Although the facial features of MDPL syndrome suggested a difficult airway, intubation with a McGrath™ Mac video laryngoscope was successful. Despite MDPL syndrome’s association with hypertriglyceridemia due to lipodystrophy, this patient’s triglyceride levels were normal. Thiamylal and sevoflurane were used without issues such as delayed emergence from anesthesia. Conclusions MDPL syndrome requires careful preoperative assessment and tailored anesthetic management due to potential airway challenges arising from its distinctive facial features and the possibility of altered anesthetic pharmacokinetics associated with lipodystrophy.

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Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report

Sekiguchi,

Kinoshita,

Sakai

et al. 2024

JA Clin Rep

View full text Add to dashboard Cite

show abstract

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The enigma of persistent hypertriglyceridemia: A case report

Cited by 1 publication

References 12 publications

Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report

Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report

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