Massive labial lipomatous hypertrophy in familial partial lipodystrophy seen on computed tomographic angiography

Selting, Kevin; Hansen, Neil J.; Harrison, William L

doi:10.1016/j.radcr.2019.08.007

Cited by 2 publications

(1 citation statement)

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“…These characteristics suggest that the term "lipodystrophic syndrome" would be more appropriate than "multiple symmetric lipomatosis (MSL)" to describe the disease in patients with LIPE variants. Notably, the term "lipomatous" has also been used to describe areas of fat accumulation in genetically-characterized lipodystrophy (20), further stressing the clinical continuum between so-called "MSL" and lipodystrophic syndromes. Apart from lipodystrophy, neuromuscular manifestations are present in nearly half of patients.…”

Section: Discussionmentioning

confidence: 99%

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

Sollier

Capel

Aguilhon

et al. 2021

European Journal of Endocrinology

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Objective The term Multiple Symmetric Lipomatosis (MSL) describes a heterogeneous group of rare monogenic disorders and multifactorial conditions, characterized by upper-body adipose masses. Biallelic variants in LIPE encoding hormone sensitive lipase (HSL), a key lipolytic enzyme, were implicated in three families worldwide. We aimed to further delineate LIPE-related clinical features and pathophysiological determinants. Methods A gene panel was used to identify pathogenic variants. The disease features were reviewed at the French lipodystrophy reference center. The immunohistological, ultrastructural, and protein expression characteristics of lipomatous tissue were determined in surgical samples from one patient. The functional impact of variants was investigated by developing a model of adipose stem cells (ASCs) isolated from lipomatous tissue. Results We identified new biallelic LIPE null variants in three unrelated patients referred for MSL and/or partial lipodystrophy. The hallmarks of the disease, appearing in adulthood, included lower-limb lipoatrophy, upper-body and abdominal pseudolipomatous masses, diabetes and/or insulin resistance, hypertriglyceridemia, liver steatosis, high blood pressure, and neuromuscular manifestations. Ophthalmological investigations revealed numerous auto-fluorescent drusen-like retinal deposits in all patients. Lipomatous tissue and patient ASCs showed loss of HSL and decreased expression of adipogenic and mature adipocyte markers. LIPE-mutated ASCs displayed impaired adipocyte differentiation, decreased insulin response, defective lipolysis, and mitochondrial dysfunction. Conclusions Biallelic LIPE null variants result in a multisystemic disease requiring multidisciplinary care. Loss of HSL expression impairs adipocyte differentiation, consistent with the lipodystrophy/MSL phenotype and associated metabolic complications. Detailed ophthalmological examination could reveal retinal damage, further pointing to the nervous tissue as an important disease target.

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Section: Discussionmentioning

confidence: 99%