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

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 sought.

Discussion: Our patient's case highlights the values of judicious physical examination and thoughtful inquiry of medical and family histories in arriving at the diagnosis of FPLD2. A thorough physical examination most of the time is necessary to diagnose this condition as some of the traits associated with the lack of adiposity may be seen as desirable to the general public.

Conclusion: It is important that physicians obtain a thorough history and physical examination that may help in the prompt diagnosis of rare diseases like FPLD2, with subsequent multidisciplinary care that includes endocrinology, hepatology, cardiology, and nutrition.