Short summary

The overall aim of the study is to map the prevalence and extent of liver disease in a cohort of adults with the heriditary condition alpha 1 antitrypsin. 

Rationale

Alpha 1 antitrypsin deficiency (AATD) is a genetic disease. Antitrypsin is a protein synthesised by the liver. The protein accumulates in the liver. In some individuals, both children and adults, accumulation of the protein leads to liver injury with formation of scar tissue, and some develop liver cirrhosis.  Most often, AATD, manifest as lung disease, as the protein is needed to protect the lungs during infections. Patients with AATD receive regular lung examination and are monitored for the extent of lung disease. However, only a minority of the patients are examined for signs of liver involvement. Genetic carriers of the disease have higher risk of lung disease when exposed to smoking. Factors affecting risk of liver disease among carriers is not characterized. The study is a part of a multinational European study that aims to study the prevalence of liver disease in a cohort of patients with AATD, as well as genetic carriers. At European level, the study is coordinated by the German Alpha 1 Center at Aachen University Hospital in Germany. 

Description of the cohort

The cohort consist of adult patients with AATD, both in the classic homozygote form, but also genetic carriers, and patients with more rare genetic variants of the disease will participate.

Participants are included in collaboration with the Danish Alpha1 Patient Association, liver and lung outpatient clinics.

Follow-up examinations will be performed after 1 and 5 years. 

Data and biological material

Data collection includes information of baseline data on the patients, including age, sex and gender. Baseline measurements include height, weight and measurements of muscle strength. Data on patient history, previous liver examination and known AATD in the family are obtained by questionnaires. They also includes standard questionnaires on lung symptoms

Blood is collected and sored in a biobank for testing of novel biomarkers of liver disease. A standard blood panel is performed, including analyses for underlying liver disease. Genetic genotype is usually known, but confirmed by genetic analyses on blood.

The participans are examined by liver ultrasound and measurements of liver stiffness (Fibroscan and shear wave elastography). 

Collaborating researchers and departments

Department of Internal Medicine, Aachen University Hospital, Aachen, Germany

• Professor Christian Trautwein, MD
• Professor Pavel Strnad, MD
• Consultant Karim Hamsech, MD