Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.

Autor: Lima JG; Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL/UFRN), Natal, RN, Brazil., Nobrega LHC; Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL/UFRN), Natal, RN, Brazil., Lima NN; Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL/UFRN), Natal, RN, Brazil., Dos Santos MCF; Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL/UFRN), Natal, RN, Brazil., Silva PHD; Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL/UFRN), Natal, RN, Brazil., Baracho MFP; Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL/UFRN), Natal, RN, Brazil., Lima DN; Universidade Federal de Pernambuco (UFPE), Recife, PE, Brazil., de Melo Campos JTA; Faculdade de Ciências da Saúde do Trairi (UFRN), Santa Cruz, RN, Brazil., Ferreira LC; Instituto de Medicina Tropical do Rio Grande do Norte (UFRN), Natal, RN, Brazil., Freire Neto FP; Instituto de Medicina Tropical do Rio Grande do Norte (UFRN), Natal, RN, Brazil., Mendes-Aguiar CO; Instituto de Medicina Tropical do Rio Grande do Norte (UFRN), Natal, RN, Brazil., Jeronimo SMB; Instituto de Medicina Tropical do Rio Grande do Norte (UFRN), Natal, RN, Brazil.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2018 Jun 08; Vol. 13 (6), pp. e0199052. Date of Electronic Publication: 2018 Jun 08 (Print Publication: 2018).
DOI: 10.1371/journal.pone.0199052
Abstrakt: Introduction: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL.
Method: We analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017. If the death certificate was incomplete or unavailable, we reviewed the medical records, and if they were not available too, we collected information from the patient's relatives to understand how the death happened. We calculated the potential years of life lost as a result of premature death.
Results: Twenty patients (12 female and 8 male) died between 1997 and 2017. The mean age at the time of death was 27.1±12.4 years (women 25.2±12.5 vs. men 29.9±12.6 years, p = 0.41). Life expectancy for the study population was 62.9±4.8 years. The potential number of years of life lost was 35.6±16.6 years. The causes of deaths were divided into three major groups: infections (7 patients, 35%), liver disease (7 patients, 35%), and other causes (acute pancreatitis, one patient; renal failure, three patients; sudden death/myocardial infarction, two patients). Three patients had pulmonary fibrosis.
Conclusion: BSCL led to premature death, cutting the patients' lifespan by 30 or more years. The majority of these young patients died of liver disease or infection. Other studies are needed to understand better the mechanisms that predispose to infections, as well as to assess whether new therapies can alter the natural history of this disease.
Competing Interests: The authors have declared that no competing interests exist.
Databáze: MEDLINE
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