A serendipitous discovery: an adult case of congenital generalized lipodystrophy

  • Abdul Rehman Zia Zaidi | ar-zia@hotmail.com College of Medicine, Alfaisal University; Department of Medicine, King Fahad Medical City, Riyadh, Saudi Arabia. https://orcid.org/0000-0003-0137-9633
  • Asma Sikander Department of Medicine, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Eissa Faqeih Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical City, Saudi Arabia.
  • Njoud Abdulrahman Alhowar College of Medicine, Alfaisal University; Department of Emergency Medicine, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Mohammed Abdullah AlSheef Department of Medicine, King Fahad Medical City, Riyadh, Saudi Arabia. https://orcid.org/0000-0003-1651-1158

Abstract

Congenital generalized lipodystrophies are a heterogeneous group of rare disorders characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism, and mental retardation. We report a 41-year-old female that presented as a rare adult case of congenital generalized lipodystrophy type 1. She was referred to us as a case of hypertriglyceridemia with features of generalized lipodystrophy and manifestations of associated multiple metabolic disorders. Triglyceride level was tremendously high with reduced high-density lipoproteins. The patient was found to have a pathogenic novel mutation in the AGPAT2 gene, confirming the diagnosis of congenital generalized lipodystrophy type 1.

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Published
2020-03-19
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Issue
Section
Case Reports
Keywords:
Hypertriglyceridemia, Berardinelli Seip congenital lipodystrophy, lipodystrophy, phlebomegaly, AGPAT2.
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How to Cite
Zaidi, A. R. Z., Sikander, A., Faqeih, E., Alhowar, N. A., & AlSheef, M. A. (2020). A serendipitous discovery: an adult case of congenital generalized lipodystrophy. Italian Journal of Medicine, 14(1), 31-35. https://doi.org/10.4081/itjm.2020.1231