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2022, Number 1

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Rev Cuba Endoc 2022; 33 (1)

Clinical and pathophysiological spectra of Bernardinelli Seip syndrome

Milian HEJ, Anzules GJB, Betancourt-Castellanos L

Language: Spanish
References: 30
Page:
PDF size: 190.60 Kb.


ABSTRACT

Introduction: Berardinelli-Seip congenital lipodystrophy is an autosomal recessive genetic syndrome, characterized by the general absence of adipose tissue, leptin deficiency and metabolic alterations including insulin resistance, steatohepatitis and hypertriglyceridemia.
Objective: To present the different clinical and pathophysiological spectra of the syndrome, its relationship with the phenotype, defining the current therapeutic strategies.
Methods: A non-systematic bibliographic search was carried out in Science Direct, EMBASE, LILACS, Redalyc, SciELO and PubMed databases. The inclusion criteria were publications in English, Portuguese and Spanish, in which the title and keywords included information pertinent to the stated objective with a periodicity of 10 years, 50 articles were retrieved, and 30 of them were selected.
Conclusions: The diagnosis of the disease is mainly clinical. It is established in the presence of three major criteria or the combination of two major and two minor criteria and/or by the identification of pathogenic variants through genetic and molecular studies. Diet and exercise together with the administration of metreleptin are fundamental pillars in the management of these patients. Early recognition of the syndrome is essential to prevent complications, allowing genetic and reproductive counseling to be provided to patients and their families.


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