ea0041ep370 | Clinical case reports - Thyroid/Others | ECE2016
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...