Details

Autor(en) / Beteiligte

• van Capelleveen, Julian C., MD
• Kootte, Ruud S., MD
• Hovingh, G. Kees, MD, PhD
• Bochem, Andrea E., MD, PhD

Titel

Myocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency

Ist Teil von

• Journal of clinical lipidology, 2015-05, Vol.9 (3), p.396-399

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• Abstract In this report, we present a patient who suffered from a myocardial infarction at an extremely young age. The only remarkable finding in the risk factor workup was a near undetectable high-density lipoprotein (HDL)-cholesterol plasma level (0.09 mmol/L). Genetic analysis of key genes involved in HDL metabolism resulted in the discovery of 2 very rare mutations in the ABCA1 and APOA1 genes. We discuss the effects of these mutations on HDL metabolism and reverse cholesterol transport and interpret these findings in relation to the extensive atherosclerosis at a very young age in this patient.