Abstract
Liver affection of Alpha1-antitrypsin deficiency (AATD) can lead to cirrhosis and hepatocellular carcinoma (HCC). A noninvasive severity assessment of liver disease in AATD is urgently needed since laboratory parameters may not accurately reflect the extent of liver involvement. Preliminary data exist on two-dimensional shear wave elastography (2D-SWE) being a suitable method for liver fibrosis measurement in AATD. AATD patients without HCC were examined using 2D-SWE, shear wave dispersion imaging (SWD) and transient elastography (TE). Furthermore, liver steatosis was assessed using the controlled attenuation parameter (CAP) and compared to the new method of attenuation imaging (ATI). 29 AATD patients were enrolled, of which 18 had the PiZZ genotype, eight had PiMZ, two had PiSZ and one had a PiZP-Lowell genotype. 2D-SWE (median 1.42 m/S, range 1.14–1.83 m/S) and TE (median 4.8 kPa, range 2.8–24.6 kPa) values displayed a significant correlation (R = 0.475, p < 0.05). 2D-SWE, ATI (median 0.56 dB/cm/MHz, range 0.43–0.96 dB/cm/MHz) and CAP (median 249.5 dB/m, range 156–347 dB/m) values were higher in PiZZ when compared to other AATD genotypes. This study provides evidence that 2D-SWE is a suitable method for the assessment of liver disease in AATD. The newer methods of SWD and ATI require further evaluation in the context of AATD.
Highlights
Alpha1-antitrypsin deficiency (AATD) is an autosomal codominant hereditary disease that mainly affects the lungs, causing emphysema or chronic bronchitis, while liver disease constitutes the second leading specific cause of AATD-related mortality
AATD patients with a homozygous genotype (PiZZ) display a ~20 times increased risk for the development of liver cirrhosis, but hepatic involvement is seen in the compound heterozygous phenotype (PiSZ) or to an even smaller degree in several other phenotypes [3] such as the heterozygous PiZ carriage, which is termed PiMZ
US examinations were conducted by the same experienced operator with experience in liver ultrasound and sonoelastography (>6000 US, >2000 shear wave elastography (SWE))
Summary
Alpha1-antitrypsin deficiency (AATD) is an autosomal codominant hereditary disease that mainly affects the lungs, causing emphysema or chronic bronchitis, while liver disease constitutes the second leading specific cause of AATD-related mortality. A mutation in the alpha1-antitrypsin (AAT) gene (SERPINA1) leads to an incorrect tertiary structure and causes an accumulation of insoluble AAT in the endoplasmatic reticulum of hepatocytes [2]. This promotes hepatic inflammation and fibrogenesis that can yield to cirrhosis and HCC. Unlike in other chronic liver diseases such as viral hepatitis, AATD patients with liver affection do not necessarily display abnormal liver blood parameters [4] This makes an accurate evaluation of the clinical state and course of AATD-related liver disease difficult
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