AACE clinical case reports | 2021
Judicious History and Examination Revealing a Rare Diagnosis of Familial Partial Lipodystrophy in a 32-Year-Old Woman With Life-Threatening Pancreatitis due to Hypertriglyceridemia
Abstract
Abstract Background /Objective: 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 including 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 thorough history, observation and examination leading to genetic testing. With the underlying etiology and diagnosis 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 exam most times is necessary to diagnose this condition as some of the traits associated with lack of adiposity may be seen as desirable to the general public. Conclusion It is important that physicians obtain a thorough history and physical exam which may help in prompt diagnosis of rare diseases like FPLD2, with subsequent multi-disciplinary care that includes endocrinology, hepatology, cardiology, and nutrition.