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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association of Clinical Endocrinology
2021
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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. |
format | Online Article Text |
id | pubmed-8784711 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | American Association of Clinical Endocrinology |
record_format | MEDLINE/PubMed |
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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