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Congenital analbuminemia in a patient affected by hypercholesterolemia:A case report

World Journal of Clinical Cases 2019年第4期7卷 466-472页

作者： Patrizia Suppressa Concetta Carbonara Francesca Lugani Monica Campagnoli Teresa Troiano Lorenzo Minchiotti Carlo Sabbà Department of Internal Medicine and Rare Disease Centre University Hospital of Bari Department of Medicine University of Bari School of Medicine Laboratory of Molecular Nephrology Istituto Giannini Gaslini Department of Molecular Medicine University of Pavia Department of Clinical Pathology University Hospital of Bari Department of Interdisciplinary Medicine Geriatric Unit and Rare Disease Center "Aldo Moro" University

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 *** SUMMARY Our patient presented with a history of hypercholesterolemia and referred asthenia and heaviness in both legs. She was born from healthy and nonconsanguineous 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 *** the patient receives Atorvastatin 20 mg od and undergoes clinical and laboratory follow-up every six months. She never needed albumin *** Our experience shows how treatment with atorvastatin may be safely administered and well tolerated in patients affected by CAA.

关键词： Congenital analbuminemia Hypercholesterolemia Hypoalbuminemia Rare disease Case report

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Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion

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World Journal of Clinical Cases 2013年第1期1卷 44-48页

作者： Maria Del Ben Francesco Angelico Lorenzo Loffredo Francesco Violi Clinica Medica I Sapienza University 00161 Rome Italy

Congenital analbuminemia is a rare autosomic recessive inherited disorder characterized by low plasma albumin and hypercholesterolemia, which may increase cardiovascular risk. Patients are essentially asymptomatic, apart from ease of fatigue, minimal ankle oedema and hypotension. There is no accepted strategy for safely treating both hypercholesterolemia and analbuminemia in order to eventually decrease the atherosclerotic risk. We report a case of congenital analbuminemia(1.0 g/dL) in a 38-year-old male with hypercholesterolemia(range: 406-475 mg/dL) and severe arterial dysfunction [no brachial artery flow-mediated dilation(FMD)]. Long-term, cholesterol-lowering treatment with atorvastatin was associated with the appearance of peripheral edema. Twomonths of infusion with albumin improved FMD(7%) and reduced serum cholesterol(273 mg/dL), supporting the hypothesis of a compensatory role of hypercholesterolemia. Statin treatment, together with periodical albumin infusions, may contribute to the safe reduction of cardiovascular risk.

关键词： analbuminemia Hypercholesterolemia Atorvastatin Albumin infusion Endothelial dysfunction

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