Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia

Ben, Maria Del; Burattin, Marco; Arca, Marcello; Ceci, Fabrizio; Violi, Francesco; Angelico, Francesco

doi:10.1016/j.amjmed.2004.06.039

Cited by 12 publications

(6 citation statements)

References 6 publications

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“…Long term treatment with atorvastatin was tested in one other Italian patient with CAA: a 38-year-old man received atorvastatin 40 mg od with a decrease of total and LDL cholesterol from baseline by 37.7% and 50.6% respectively. HDL cholesterol increased by 13.4%[10]. Treatment was safe and no elevated values of creatine kinase, liver enzymes were detected as in our case.…”

Section: Discussionsupporting

confidence: 57%

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

Suppressa¹,

Carbonara²,

Lugani³

et al. 2019

WJCC

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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.

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Section: Discussionsupporting

confidence: 57%

“…Despite data of analbuminemic patients’ follow-up are not available, early diagnosis of this rare condition may prevent hypercholesterolemia related cardiovascular events[8]. Thus, treatment with statins seems to be recommended to reduce long term cardiovascular risk, according to experiences reported in literature[9,10] .…”

Section: Discussionmentioning

confidence: 99%

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

Suppressa¹,

Carbonara²,

Lugani³

et al. 2019

WJCC

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“…Hypercholesterolemia may have been responsible for some cases of premature coronary heart disease, although there are very few reports of patients with congenital analbuminemia who have had long-term follow-up as adults. Therefore, although most patients with hereditary analbuminemia have not experienced premature atherosclerosis, treatment with statins appears to be recommended [7,8]. In view of the altered pharmacokinetics in patients with analbuminemia, albumin-bound drugs should be administered with caution and monitored carefully [8].…”

Section: Resultsmentioning

confidence: 99%

Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

Dagnino

Caridi

Haenni³

et al. 2011

IJMS

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Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L) in the absence of renal or gastrointestinal protein loss, or liver dysfunction. The clinical diagnosis was confirmed by a mutational analysis of the albumin (ALB) gene, carried out by single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing. This screening of the ALB gene revealed that the proband is homozygous for two mutations: the insertion of a T in a stretch of eight Ts spanning positions c.1289 + 23–c.1289 + 30 of intron 10 and a c.802 G > T transversion in exon 7. Whereas the presence of an additional T in the poly-T tract has no direct deleterious effect, the latter nonsense mutation changes the codon GAA for Glu244 to the stop codon TAA, resulting in a premature termination of the polypeptide chain. The putative protein product would have a length of only 243 amino acid residues instead of the normal 585 found in the mature serum albumin, but no evidence for the presence in serum of such a truncated polypeptide chain could be obtained by two dimensional electrophoresis and western blotting analysis.

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“…His medical history has been reported elsewhere (16,17 ). The proband's relatives had HSA concentrations in the lower end of the reference interval (father, 35 g/L; mother, 33 g/L; sister, 42 g/L).…”

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confidence: 90%

Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene

Campagna

Fioretti²,

Burattin³

et al. 2005

Clinical Chemistry

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Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia

Cited by 12 publications

References 6 publications

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

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

Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene

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