Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep370 | Clinical case reports - Thyroid/Others | ECE2016

Apolipoprotein B deficiency

Lloclla Eyvee Arturo Cuellar , Pena Ignacio Fernandez , de Pinillos Gordillo Guillermo Martinez , Lopez Ignacio Domingo Fernandez , Perez Fernando Garcia , Porcel Alvaro Romero , Ladreda Mariana Tome Fernandez , de Quiros Munoz Juan Manuel Garcia , Leon Maria Victoria Cozar

Introduction: Family hypobetalipoproteinemia (HBF) is a rare genetic disorder, in 50% of cases are due to mutations APOB gene, which leads to decreased values of total cholesterol, low density lipoprotein (LDL-cholesterol) and apo-B. It is inherited as an autosomal dominant and heterozygous carriers are usually asymptomatic.Clinical case: Thirty-two-year-old male with abdominal pain and diarrhea associated with food, no relevant history and physical exam...