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

Abstract

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.

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

“…The predicted translation product (p.Leu540Phefs ∗ 2) would consist of 516 amino acids (Dagnino et al, 2010a). Very recently, we have detected the same deletion in an Italian analbuminemic woman (Suppressa et al, 2019).…”

Congenital Analbuminemia Associated with Hypothyroidism in a Preterm Neonate: The First Case from a Highly Consanguineous Community

“…The finding of a normal level of free T4 might be attributable to the absence of albumin, with the higher thyroid binding globulin capacity that has been reported in patients with CAA 15 possibly being insufficient to compensate for the lack of albumin. Hypothyroidism has previously been reported in two patients, 16,17 but whether hypothyroidism is actually related to CAA or not cannot be determined at this stage.…”

Performance evaluation of different albumin assays for the detection of analbuminemia

“…Not all the CAA reports specify their methods for estimating albumin levels, but in papers where methods were disclosed, we noted systematically higher albumin values from BCG and BCP assays in comparison to the other methods used in the same report [ 14 – 17 , 28 ]. In case reports we have seen the serum albumin level in patients with CAA obtained by BCG and BCP assays typically range from 0.15–1.6 g/dL, and 0.8–1.6 g/dL, respectively [ 14 , 16 , 17 , 29 – 32 ], while immunoassays yielded lower albumin values ranging from 0 to 0.2 g/dL [ 14 , 16 , 17 , 33 , 34 ]. However, CAA is a heterogeneous condition with different patients exhibiting different mutations; therefore, it cannot be stated that every CAA patient should exhibit exactly zero albumin expression.…”