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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report
Patrizia Suppressa, Concetta Carbonara, Francesca Lugani, Monica Campagnoli, Teresa Troiano, Lorenzo Minchiotti, Carlo Sabbà
Patrizia Suppressa, Department of Internal Medicine and Rare Disease Centre, University Hospital of Bari, Bari 70124, Italy
Concetta Carbonara, Department of Medicine, University of Bari, School of Medicine, Bari 70124, Italy
Francesca Lugani, Laboratory of Molecular Nephrology, Istituto Giannini Gaslini, IRCCS, Genova 16148, Italy
Monica Campagnoli, Lorenzo Minchiotti, Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy
Teresa Troiano, Department of Clinical Pathology, University Hospital of Bari, Bari 70124, Italy
Carlo Sabbà, Department of Interdisciplinary Medicine, Geriatric Unit and Rare Disease Center, "Aldo Moro" University, Bari 70125, Italy
Author contributions: Suppressa P conceived the case report, collected the patient data and performed the follow-up of the patient; Sabbà C helped with insightful discussion; Carbonara C collected the patient data; Troiano T performed the laboratory testing; Lugani F, Campagnoli M, and Minchiotti L performed the mutation analysis of the ALB. Minchiotti L contributed also to the drafting of the text. All the authors read and approved the final version of this article.
Supported by a Grant of the Italian Ministry of Education, University and Research to the Department of Molecular Medicine of the University of Pavia under the initiative "Dipartimenti di Eccellenza (2018-2022)", and Compagnia di S.Paolo, No. ROL9849.
Informed consent statement: The study participants provided informed written consent prior to their treatments and study enrollment.
Conflict-of-interest statement: All authors declare no conflict of interest related to this study or its publication.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Patrizia Suppressa, MD PhD, Doctor, Department of Interdisciplinary Medicine, Geriatric Unit and Rare Disease Center, “A. Moro” University of Bari, Piazza G. Cesare 11, Bari 70124, Italy.
patrizia.suppressa@gmail.com
Telephone: +39-80-5592773 Fax: +39-80-5478126
Received: October 18, 2018
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
BACKGROUND
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.
CASE SUMMARY
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.
CONCLUSION
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.
