Alpha-1-antitrypsin phenotypes in adult liver disease patients

Alpha-1-antitrypsin (AAT) is an important serine protease inhibitor in humans. Hereditary alpha-1-antitrypsin deficiency (AATD) affects lungs and liver. Liver disease caused by AATD in paediatric patients has been previously well documented. However, the association of liver disease with alpha-1-antitrypsin gene polymorphisms in adults is less clear. Therefore, we aimed to study AAT polymorphisms in adults with liver disease. We performed a case-control study. AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. The control group consisted of 218 healthy blood donors. A significant deviation of observed and expected frequency of AAT phenotypes from Hardy-Weinberg equilibrium (chi-square = 34.77, df 11, P = 0.000) in the patient group was caused by a higher than expected frequency of Pi ZZ homozygotes (f = 0.0143 and f = 0.0005, respectively, P = 0.000). In addition, Pi M homozygotes were more frequent in patients than in controls (63% and 46%, respectively, P = 0.025). Our study results show that Pi ZZ homozygosity in adults could be associated with severe liver disease. Presence of Pi M homozygosity could be associated with liver disease via some mechanism different from Z allele-induced liver damage through accumulation of AAT polymers

Sport-Related Portal Vein Thrombosis: An Unusual Complication

Portal vein thrombosis (PVT) is an uncommon condition usually associated with hypercoagulable states or liver cirrhosis. PVT due to sports-related injuries is rarely reported and, to the best of our knowledge, only two cases have been reported thus far. Brazilian jiu-jitsu (BJJ) is a form of martial arts and is considered very safe with minimal risk for injury. It has growing popularity worldwide. Here, we report the first case of PVT secondary to abdominal trauma related to the practice of (BJJ) in an otherwise healthy 32-year-old man with no other traditional risk factors for PVT