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Clinical Chemistry 47: 1490-1496, 2001;
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(Clinical Chemistry. 2001;47:1490-1496.)
© 2001 American Association for Clinical Chemistry, Inc.

Proceedings of the 24th Arnold O. Beckman Conference

Heterozygous M3Mmalton {alpha}1-Antitrypsin Deficiency Associated with End-Stage Liver Disease: Case Report and Review

Valérie Canva1a, Sandrine Piotte1, Jean-Pierre Aubert2,3, Nicole Porchet2,3, Martine Lecomte-Houcke4, Guillemette Huet2,3, Tahar Zenjari1, Didier Roumilhac5, François-René Pruvot5, Pierre Degand2,3, Jean-Claude Paris1 and Malika Balduyck2

Departments of
1 Hepatology and Gastroenterology,
2 Biochemistry, and
4 Pathology, Hôpital C. Huriez, CHRU-Lille, 59037 Lille Cedex, France.
3 Unité INSERM 377, Place de Verdun, 59037 Lille Cedex, France.

5 Department of Liver Transplantation, Hôpital A. Calmette, CHRU-Lille, 59037 Lille Cedex, France.

aAddress correspondence to this author at: Department of Hepatology and Gastroenterology, Hôpital Huriez, CHRU, rue Michel Polonovski, 59037 Lille Cedex, France. E-mail vcanva{at}chru-lille.fr.


Abstract

{alpha}1-Antitrypsin ({alpha}1AT) deficiency is an autosomal recessive disorder that can cause pulmonary emphysema and liver disease. We report here the case of a 59-year-old woman who was admitted to hospital for evaluation of jaundice. She had no history of hepatitis or childhood liver disease. She had never received a blood transfusion, nor had she abused drugs or alcohol. Transjugular liver biopsy was then performed and revealed a micronodular cirrhosis. Ten months later, because of persistent liver cell failure and ascites, she underwent an orthotopic liver transplantation. Investigation of {alpha}1AT system in the proband revealed a substantial decrease in serum {alpha}1AT associated with a low elastase inhibitory capacity. The Pi phenotype revealed a PiM-like profile. Sequencing of exons 1–5 demonstrated the presence of the M3 allele. Moreover, a triple nucleotide deletion was detected in exon 2 of one allele. This caused an "in-phase" frameshift, coding for a protein deficient in a single Phe residue, which corresponded to the Mmalton variant. After liver biopsy, periodic acid-Schiff-positive acidophilic bodies resistant to diastase digestion were observed in the cytoplasm of hepatocytes. These results demonstrated that our patient had a heterozygous M3Mmalton {alpha}1AT genotype related to a deficiency phenotype. This observation is the first of a patient with heterozygous Mmalton genotype associated with an {alpha}1AT deficiency that induced severe liver disease requiring orthotopic liver transplantation.






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