Two siblings with tuberous xanthomas: case report

Tuberous xanthomas, a variety of the broad category of xanthomas, are a result of abnormalities in the lipoprotein metabolism, often familial in nature. These nodular swellings typically arise over the extensor aspect of the body, such as the elbows and the knees. A worrisome entity associated with them is the uncontrolled hyperlipidaemia, especially in young individuals. Here, we present two young brothers with such rare clinical signs and other manifestations of hyperlipidaemia, highlighting that thorough head-to-toe examination with the right set of investigations can aid in the diagnosis and management.

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Publication Details

Journal
BMJ Case Reports
Published
2025-03-01
DOI
https://doi.org/10.1136/bcr-2024-262973
Primary Topic
Cancer, Lipids, and Metabolism
Type
article
Field-Weighted Citation Impact
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article

Two siblings with tuberous xanthomas: case report

K Ramesh, Sneha Rao A R, Sunil Kumar Shetty, Tejaswini Girish
BMJ Case Reports
Cancer, Lipids, and Metabolism
article

Two siblings with tuberous xanthomas: case report

K Ramesh, Sneha Rao A R, Sunil Kumar Shetty, Tejaswini Girish
article en

Abstract

Tuberous xanthomas, a variety of the broad category of xanthomas, are a result of abnormalities in the lipoprotein metabolism, often familial in nature. These nodular swellings typically arise over the extensor aspect of the body, such as the elbows and the knees. A worrisome entity associated with them is the uncontrolled hyperlipidaemia, especially in young individuals. Here, we present two young brothers with such rare clinical signs and other manifestations of hyperlipidaemia, highlighting that thorough head-to-toe examination with the right set of investigations can aid in the diagnosis and management.

BMJ Case ReportsVol. 18(3)
Manipal Academy of Higher Education (IN), Kasturba Medical College, Manipal (IN)
Openalex Percentile: Top 94%
Cancer, Lipids, and Metabolism
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