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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...

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Autores principales: Akamnonu, Chukwuka, Ueda, Masako, Shah, Ankit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784711/
https://www.ncbi.nlm.nih.gov/pubmed/35097194
http://dx.doi.org/10.1016/j.aace.2021.06.005
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author Akamnonu, Chukwuka
Ueda, Masako
Shah, Ankit
author_facet Akamnonu, Chukwuka
Ueda, Masako
Shah, Ankit
author_sort Akamnonu, Chukwuka
collection PubMed
description 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.
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spelling pubmed-87847112022-01-28 Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia Akamnonu, Chukwuka Ueda, Masako Shah, Ankit AACE Clin Case Rep Case Report 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. American Association of Clinical Endocrinology 2021-06-16 /pmc/articles/PMC8784711/ /pubmed/35097194 http://dx.doi.org/10.1016/j.aace.2021.06.005 Text en © 2021 AACE. Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Akamnonu, Chukwuka
Ueda, Masako
Shah, Ankit
Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
title Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
title_full Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
title_fullStr Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
title_full_unstemmed Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
title_short Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
title_sort rare diagnosis of familial partial lipodystrophy in a patient with life-threatening pancreatitis due to hypertriglyceridemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784711/
https://www.ncbi.nlm.nih.gov/pubmed/35097194
http://dx.doi.org/10.1016/j.aace.2021.06.005
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