From rare familial mutations to multifactorial disease: aldo-keto reductase 1C enzymes as a central biological pathway in lipedema

The discovery of pathogenic variants in AKR1C1 and AKR1C2 in ultra-rare familial lipedema highlights steroid hormone metabolism as a core mechanism affecting about 11% of women during reproductive age. Lipedema represents a complex disease shaped by the interplay between rare mutations, common regul...

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Autors principals:	Daniil Vainberg, Jurgen Kaftalli, Luca Ferrari, Kristjana Dhuli, Beatrice Della Frera, Dominika Veselenyiova, Ahmad Jainul Abidin, Serena Michelni, Silvia Michelni, Sandro Michelni, Matteo Bertelli
Format:	Artigo
Idioma:	Inglês
Publicat:	PAGEPress Publications 2026-04-01
Col·lecció:	Veins and Lymphatics
Matèries:	Lipedema AKR1C1 AKR1C2 steroid metabolism obesogens
Accés en línia:	https://www.pagepressjournals.org/vl/article/view/15495
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