Published online Feb 26, 2019. doi: 10.12998/wjcc.v7.i4.466
Peer-review started: October 18, 2018
First decision: November 15, 2018
Revised: December 7, 2018
Accepted: December 12, 2018
Article in press: December 12, 2018
Published online: February 26, 2019
Processing time: 131 Days and 22 Hours
Congenital analbuminemia (CAA) is a very rare disorder. Our data describes the clinical features and laboratory results of a new case established by mutation analysis of the albumin gene in a 39-year-old woman presenting with hypercholesterolemia. Our findings contribute to shed light on the molecular genetics of the disorder and confirm that safe and well tolerated hypocholesterolemic treatment with atorvastatin may be administered in dislipidemic patient with CAA in order to reduce their cardiovascular risk.
Our patient presented with a history of hypercholesterolemia and referred asthenia and heaviness in both legs. She was born from healthy and non-consanguineous parents and her development was normal. She had not familiarity for early cardiovascular disease, and did not report personal history of hypertension, chronic kidney or liver diseases. Clinical laboratories results showed critically reduced value of albumin whereas other serum proteins were elevated. Main causes of hypoalbuminemia (proteinuria, inflammatory state and insufficient hepatic synthesis) were ruled out by normal procedures and laboratory tests. So the hypothesis of a CAA was tested through mutation analysis of the albumin gene that revealed a homozygous CA deletion in exon 12, at nucleotide positions c1614-1615. This finding brought to the diagnosis of CAA. Currently the patient receives Atorvastatin 20 mg od and undergoes clinical and laboratory follow-up every six months. She never needed albumin infusions.
Our experience shows how treatment with atorvastatin may be safely administered and well tolerated in patients affected by CAA.
Core tip: The role of albumin in lipids transport and metabolism makes hypercholesterolemia the most detectable biochemical sign in analbuminemic patients. Despite patients affected by congenital analbuminemia have no severe clinical symptoms in adulthood; they might have high cardiovascular risk, morbility and perinatal mortality as suggested in our patients’ familiar and personal medical history.