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

ABSTRACT:

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 m

SUBMITTER: Lima JG 

PROVIDER: S-EPMC5993255 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature