Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. Berardinelliseip congenital lipodystrophy bscl is a rare autosomal recessive disease characterized by a nearcomplete absence of adipose tissue from birth. Barra cb, savoldelli sv, manna td, kim ca, magre j, porta g, setian n, damiani d. Envolvimento cardiaco na lipodistrofia total generalizada. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Kim, jocelyn magre2, gilda porta 1, nuvarte setian, durval damiani1 resumo. Este estudo qualitativo foi desenvolvido com onze interlocutores, sendo nove pessoas vivendo com a sindrome e duas maes.
Congenital generalized lipodystrophy also called berardinelliseip congenital lipodystrophy is a rare condition characterized by an almost total lack of fatty adipose tissue in the body and a very muscular appearance. Sindrome progeroide neonatal o sindromede wiedemannrautenstrauch progeriade hutchinson gliford diabetes mellitus mal controlada hipertiroidismo insuficiencia suprarrenal neoplasias sida. I am a berardinelli, and not because it is my family name, but because i have the seipberardinelli syndrome. Although a large number of bscl cases was previously identified in rio grande do norte rn, a state in northeast brazil, its prevalence in rn regions and municipalities remains unknown.
The lipodystrophies are a heterogeneous group of diseases, which can be congenital or acquired, characterised by a partial or total absence of adipose tissue, along with insulin resistance, hypertriglyceridemia, low hdl cholesterol, liver disease, and. It is a rare disease that is scientifically and socially mostly unknown to many people. We are also thankful to the patients and families for their participation and contribution to the scientific community. Pdf cardiometabolic abnormalities in patients with. The purpose of this study was to better characterize the prevalence. Cardiometabolic abnormalities in patients with berardinelliseip syndrome. Berardinelliseip syndrome is an extremely rare disorder that belongs to other group of congenital generalised lipodystrophies. I am a berardinelli lipodystrophy community rareconnect. Berardinelliseip congenital generalized lipodystrophy bscl is an ultrarare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus.
1328 1307 201 951 511 1274 1146 1188 366 405 1547 827 796 876 1549 501 633 1529 1574 232 120 809 364 1252 829 1611 583 1618 181 1493 734 801 943 1460 722 1117 950