Serum Levels of Glutamate-Pyruvate Transaminase, Glutamate-Oxaloacetate Transaminase and Gamma-Glutamyl Transferase in 1494 Patients with Various Genotypes for the Alpha-1 Antitrypsin Gene

Pérez, José María Hernández; Blanco, Ignacio; Medina, Agustín J. Sánchez; Hernández, Laura Díaz; Pérez, Jose Antonio Pérez

doi:10.3390/jcm9123923

Cited by 5 publications

(3 citation statements)

References 20 publications

(21 reference statements)

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“…Liver enzymes have often been used to screen liver disease in AATD in clinical practice [ 36 ]. In our cohort, elevated liver enzymes and FIB-4 were more frequently observed in patients with LSM > 7.5 kPa, but normal levels were also frequently present in patients with high LSM.…”

Section: Discussionmentioning

confidence: 99%

Utility of Transient Elastography for the Screening of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency

Pons

Núñez

Esquinas

et al. 2021

JCM

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Screening of liver disease in alpha-1 antitrypsin deficiency (AATD) is usually carried out with liver enzymes, with low sensitivity. We conducted a multicenter cross-sectional study aiming to describe the utility of transient elastography for the identification of liver disease in patients with AATD. A total of 148 AATD patients were included. Among these, 54.7% were Pi*ZZ and 45.3% were heterozygous for the Z allele. Between 4.9% and 16.5% of patients had abnormal liver enzymes, without differences among genotypes. Liver stiffness measurement (LSM) was significantly higher in Pi*ZZ individuals than in heterozygous Z (5.6 vs. 4.6 kPa; p = 0.001). In total, in 8 (5%) individuals LSM was >7.5 kPa, considered significant liver fibrosis, and ≥10 kPa in 3 (1.9%) all being Pi*ZZ. Elevated liver enzymes were more frequently observed in patients with LSM > 7.5 kPa, but in 5 out of 8 of these patients all liver enzymes were within normal range. In patients with AATD, the presence of abnormal liver enzymes is frequent; however, most of these patients do not present significant liver fibrosis. Transient elastography can help to identify patients with liver fibrosis even with normal liver enzymes and should be performed in all Z-allele carriers to screen for liver disease.

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Section: Discussionmentioning

confidence: 99%

Utility of Transient Elastography for the Screening of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency

Pons

Núñez

Esquinas

et al. 2021

JCM

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“…A bibliographic search was carried out in MEDLINE, Embase (through Ovid), and Google Scholar, until December 2023, looking for studies on prevalence of AATD in the general population and in screening of people clinically suspected of being affected by AATD in Macaronesia, selecting studies published in journals reviewed by peers in order to create a database with reliable results. With the keywords "Alpha-1 antitrypsin deficiency" and the name of each archipelago, in English, and some articles cited in the bibliography of those selected, 16 articles were compiled: 2 on Madeira [7,8], 13 on the Canary Islands [9][10][11][12][13][14][15][16][17][18][19][20][21], and 1 on Cape Verde [22]. None was found about the Azores.…”

Section: Methodsmentioning

confidence: 99%

Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Macaronesia

Blanco,

Miravitlles

2024

Respiration

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Introduction: The prevalence of alpha-1 antitrypsin deficiency (AATD) in Macaronesia (i.e., Azores, Madeira, Canary Islands and Cape Verde archipelagos) is poorly known. Our goal is to update it by selecting the most reliable available articles. Method: Literature search using Medline, EMBASE (via Ovid) and Google Scholar, until December 2023, for studies on prevalence of AATD in the general population and in screenings, published in peer-reviewed journals. Results: Three studies carried out in the general population of Madeira, La Palma and Cape Verde, and three screenings carried out in La Palma (2) and Gran Canaria (1) were selected. The frequencies of PI*S in the general population showed an ascending gradient, from South to North, with values (per thousand) of 35 in Cape Verde, 82 in La Palma and 180 in Madeira. The PI*Z frequencies showed this same gradient, with values of 2 x1,000 in Cape Verde, 21 in La Palma and 25 in Madeira. Screenings detected high percentages of defective alleles, including several rare and null alleles, some unique to these islands. Conclusion: The frequencies of PI*S and PI*Z in Madeira are comparable to the highest in the world. Those of the Canary Islands are similar to those of the peninsular population of Spain, and contrast with the low rates of Cape Verde. Screenings detected high numbers of deficient alleles. These results support the systematic investigation of AATD in clinically suspected patients and in relatives of index cases, to reduce underdiagnosis and apply early preventive and therapeutic measures in those affected.

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“…Hernandez-Perez et al demonstrated that the presence of a PI*Z allele seemed to be a risk factor for developing hepatic damage. Deficient AAT genotypes were linked to changes in liver enzymes, and low AAT levels were associated with high liver enzyme levels [15]. Pons et al showed that abnormal liver enzymes are common in patients with AATD; however, most patients do not have significant liver fibrosis.…”

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confidence: 99%