Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia.

ABSTRACT:

Background

Familial partial lipodystrophy type 2 (FPLD2) is a rare genetic condition characterized by partial lack of subcutaneous tissue and can predispose an individual to complications such as hypertriglyceridemia with pancreatitis, insulin resistance, and diabetes. This report describes a case of FPLD2 identified with judicious history and examination.

Case report

This case describes a 32-year-old patient with recurrent pancreatitis who developed complications requiring multiple surgeries, fistulas, ostomy, and parenteral feeding. The diagnosis of FPLD2 was made after a thorough history, observation, and examination leading to genetic testing. With the underlying etiology and diagnosis being known, appropriate counseling, family testing, and medical follow-ups can be sou

SUBMITTER: Akamnonu C 

PROVIDER: S-EPMC8784711 | biostudies-literature | 2022 Jan-Feb

REPOSITORIES: biostudies-literature