Abstract [eng] |
Multiple lipomatosis remains an unsolved problem: due to its rarity and heterogeneous pathophysiology and clinical presentation, there is a lack of large–sample studies that clearly define diagnostic and therapeutic criteria. However, with the advances in genetics and cell biology, more and more genes associated with the disease are being discovered and new theories of pathogenesis are being put forward. This paper provides a list of genes and gene products associated with the disease, describes the consequences of their altered activity on cellular function and the future possibilities for pathogenesis–targeted therapy. It addresses the multiple symptomatology and comorbidities associated with the disease, their control and treatment, which are important criteria for the care of patients with lipomatosis, for slowing down the progression of the disease and for improving their quality of life. Radical and conservative treatment approaches are described and tailored according to the desired therapeutic effect. |