Publication details
Improvement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen
| Authors | |
|---|---|
| Year of publication | 2026 |
| Type | Peer-reviewed scientific article |
| Magazine / Source | Journal of Clinical Lipidology |
| MU Faculty or unit | |
| Citation | |
| web | https://www.sciencedirect.com/science/article/pii/S1933287425005239?via%3Dihub |
| Doi | https://doi.org/10.1016/j.jacl.2025.11.016 |
| Keywords | Lipodystrophy; Volanesorsen; PLIN1; Plasmapheresis; Insulin resistance |
| Description | Lipodystrophic syndromes are a heterogeneous group of disorders characterized by a lack of fatty tissue or abnormal fat accumulation outside of the body's typical fat distribution areas. Partial lipodystrophy most commonly manifests in childhood or young adulthood, and is classified into 6 primary subtypes, along with other rare categories. Lipodystrophy subtype 4 is associated with severe insulin resistance and unique traits, including severe hyperlipidemia, progressive liver disease, and arterial hypertension. Here we present the case of a 30-year-old woman with alarming hypertriglyceridemia, newly diagnosed diabetes mellitus, and severe hypertension. A complex differential diagnostic procedure yielded the diagnosis of familial partial lipodystrophy subtype 4. Initial treatment with plasmapheresis effectively reduced her triglyceride values but failed due to lack of intravenous access. Recurrent severe hypertriglyceridemia and normal leptin levels prompted the use of volanesorsen therapy, which is primarily indicated for treatment of hypertriglyceridemia in familial chylomicronemia syndrome. Volanesorsen proved very effective in this case. (c) 2025 National Lipid Association. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies. |
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