Z Gastroenterol 2017; 55(08): e57-e299
DOI: 10.1055/s-0037-1604980
Kurzvorträge
Leber und Galle
Druginduced and metabolic liver disease: Freitag, 15 September 2017, 10:00 – 11:20, St. Petersburg/Forschungsforum 1
Georg Thieme Verlag KG Stuttgart · New York

Liver injury, impaired body composition and pulmonary function in patients with alpha1-antitrypsin deficiency

A Arslanow
1   Saarland University Medical Center, Department of Internal Medicine II, Homburg (Saar), Deutschland
,
M Reichert
1   Saarland University Medical Center, Department of Internal Medicine II, Homburg (Saar), Deutschland
,
S Gatter
1   Saarland University Medical Center, Department of Internal Medicine II, Homburg (Saar), Deutschland
,
S Fähndrich
2   Saarland University Medical Center, Department of Internal Medicine V, Homburg (Saar), Deutschland
,
R Bals
2   Saarland University Medical Center, Department of Internal Medicine V, Homburg (Saar), Deutschland
,
K Hamesch
3   University Hospital Aachen, Department of Internal Medicine III, Aachen, Deutschland
,
C Trautwein
3   University Hospital Aachen, Department of Internal Medicine III, Aachen, Deutschland
,
P Strnad
3   University Hospital Aachen, Department of Internal Medicine III, Aachen, Deutschland
,
F Lammert
1   Saarland University Medical Center, Department of Internal Medicine II, Homburg (Saar), Deutschland
› Author Affiliations
Further Information

Publication History

Publication Date:
02 August 2017 (online)

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Background and aim:

Alpha1-antitrypsin (A1AT) deficiency is a rare disease caused by mutations in the SERPINA1 gene, predisposing for lung and liver disease, which might be associated with altered body composition and malnutrition. The specific aim of this pilot study was to assess liver injury and body composition non-invasively in patients with A1AT deficiency.

Patients and methods:

In total, 18 patients carrying A1AT variants (genotypes 8 PiMZ, 7 PiZZ, 3 PiSZ) were included, and data was compared to 28 healthy controls. None of the patients presented with significant alcohol consumption. In all participants, liver stiffness (LS) and controlled attenuation parameter (CAP) were measured using transient elastography (TE) and body composition with bioelectric impedance analysis (BIA). Pulmonary function was assessed using spirometry.

Results:

Compared to healthy controls, we found signs of liver injury, fat deposition and fibrogenesis in carriers of variant A1AT: CAP (229 vs. 174 dB/m), LS (5.9 vs. 4.0 kPa), ALT (27 vs. 21 U/l), and GGT (27 vs. 17 U/l; all p ≤0.003). Simultaneously, patients had a less favorable body composition regarding BMI (27.2 vs. 21.5 kg/m2), waist circumference (97 vs. 73 cm), muscle mass (29.9 vs. 36.0%),body and visceral fat mass (36.3 vs. 23.2% and 2.3 vs. 0.7 L, respectively; all p < 0.001). However, phase angle (PA) did not differ (5.1 vs. 5.3 °). Among the patients with A1AT deficiency, 22% presented with fibrosis or cirrhosis (≥7.65 kPa), and 39% with steatosis (≥238 dB/m). A1AT mean serum concentration was 77.5 mg/dl, and median FEV1 was 81.8%. In total, 39% of the patients presented with emphysema and 22% required supplemental oxygen. Trends towards lower BMI, muscle mass, PA, FEV1 and A1AT as well as higher CAP, LS and body fat mass were observed in PiSZ and PiZZ carriers as compared to PiMZ carriers.

Conclusions:

Patients with A1AT deficiency present with deteriorated liver and pulmonary function as well as impaired body composition. Carriers of PiSZ and PiZZ genotypes have an increased risk of liver injury and malnutrition. Simultaneous monitoring of liver and body composition provides complementary information and can be carried out by TE and BIA in a non-invasive manner, pointing to the feasibility for larger cohort studies.