Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica
- Beatriz Ramos Bachiller 1
- Manuel Luque-Ramírez 2
- Carmen Rodríguez-Jiménez 3
- Francisco J. Arrieta Blanco 4
- 1 Complejo Asistencial Universitario de León, Castilla-León, España
- 2 Hospital Universitario Ramón y Cajal, Madrid, España; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), CIBER de Diabetes y Enfermedades Metabólicas asociadas, y Universidad de Alcalá, Madrid, España
- 3 Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, España
- 4 Hospital Universitario Ramón y Cajal, Madrid, España; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, España
ISSN: 0214-9168, 1578-1879
Year of publication: 2024
Volume: 36
Issue: 3
Pages: 128-132
Type: Article
More publications in: Clínica e investigación en arteriosclerosis
Sustainable development goals
Abstract
Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoBrelated familial hypolipoproteinemia is an autosomal condition with a codominance inheritance pattern. Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source. We here present the case of a 25-yearold woman with NCAH showing decreased levels of total-cholesterol, low-density lipoprotein cholesterol and triglycerides. Her parent had digestive symptoms and severe hepatic steatosis with elevated liver enzymes, as well as decreased levels of total and low-density lipoprotein cholesterol. A genetic-molecular study of the proband identified a mutation in the APOB gene, which allowed a diagnosis of heterozygous ApoB-related hypolipoproteinaemia to be made.