Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
| Autor: | Chukwuka Akamnonu, Ankit Shah, Masako Ueda |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
lipodystrophy hypertriglyceridemia 030209 endocrinology & metabolism Physical examination Case Report FPLD familial partial lipodystrophy Diseases of the endocrine glands. Clinical endocrinology 03 medical and health sciences 0302 clinical medicine Recurrent pancreatitis familial partial lipodystrophy medicine FPLD2 familial partial lipodystrophy type 2 Intensive care medicine Genetic testing medicine.diagnostic_test TG triglyceride business.industry Hypertriglyceridemia HTG hypertriglyceridemia General Medicine RC648-665 medicine.disease Familial partial lipodystrophy 030220 oncology & carcinogenesis Etiology Pancreatitis Lipodystrophy genetic business |
| Zdroj: | AACE Clinical Case Reports AACE Clinical Case Reports, Vol 8, Iss 1, Pp 11-14 (2022) |
| ISSN: | 2376-0605 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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