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Cardiovascular complications and the impacts on the quality of life of patients with Hutching-Gilford syndrome (HGPS)
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Keywords

Progeria
Cardiovascular diseases
Quality of Life

How to Cite

Cardiovascular complications and the impacts on the quality of life of patients with Hutching-Gilford syndrome (HGPS). (2020). Revista Eletrônica Acervo Científico, 14, e4706. https://doi.org/10.25248/reac.e4706.2020

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Abstract

This article sought to review how cardiovascular complications can be aggravating factors in the quality of life of patients with Hutchinson-Gilford Syndrome. Hutchinson-Gilford Syndrome (HGPS), known as Progeria, is a pathology of premature aging of autosomal dominant genetic origin. A mutation occurs in the LMNA gene, resulting in an abnormal protein called progerin, which is responsible for the appearance of the phenotype. Life expectancy for patients is approximately 14.6 years, with cardiovascular complications as the main cause of death. The main results obtained were the emergence of fundamental gene therapies in an attempt to reduce the transcription of progerin. As it is a new pathology, an early diagnosis is important by means of genetic tests for the alteration in the LMNA gene. The pharmacological therapy used is still being studied, such as farnesyl transferase inhibitors (FTIs), Pravastatin and zoledronic acid. Furthermore, the associations of the three drugs block the pathogenesis evolution than just the isolated use of each one. Finally, the importance of parents' awareness of the first signs of symptoms, in addition to the support of a multidisciplinary team and changes in the lifestyle of these patients.

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