Author
Dr. Heinz Steveling, as published in Alpha1 Journal 1/2024.
Basic information
First, let's briefly explain what the term "heterozygous carrier" means. Put simply, every person has two sets of chromosomes, which contain the genes carrying hereditary information. Each gene is inherited once from the mother and once from the father. In a heterozygous mutation, a change in a gene is present on only one of the two inherited chromosomes. The other chromosome, however, still contains the original and unaltered gene variant.
Alpha-1 antitrypsin deficiency (AATD) is caused by a defect in a gene on chromosome 14. The gene can either be normal (M gene) or have various mutations. Most people with AATD have a Z mutation.
PiMZ
Heterozygous carriers, so-called PiMZ, inherit the healthy M gene from one parent and the Z mutation from the other. The mutation reduces the activity of alpha-1-antitrypsin to approximately 60 % compared to normal.
For a long time, it was believed that the heterogeneous carriers PiMZ, with only one mutated Z gene, were not significantly more at risk than carriers PiMM with two normal M genes – especially since deviations regarding
The development of the lungs was hardly noticeable compared to PiMM.
However, due to the significantly improved diagnostic possibilities, such as lung function diagnostics, ergospirometry and computed tomography, it is evident that PiMZ patients also require greater medical attention.
In particular, comparative studies using high-resolution computed tomography document, for example, changes in the lungs in the sense of pulmonary emphysema.
Changes associated with alpha-1 antitrypsin deficiency, which can affect both the lungs and the liver, are significantly less severe in PiMZ than in PiZZ gene defects, where mutations are present on both chromosomes. Based on current scientific knowledge, the recommendations for heterozygous PiMZ carriers are as follows:
- annual check-up of the lungs and liver
- Increased attention is required in the presence of non-alcoholic fatty liver disease (pay attention to weight).
- Increased attention is required in the case of regular hyperreactivity (increased sensitivity of the bronchi) and, if necessary, the use of inhalation therapy in the presence of corresponding symptoms.
- Vaccination prophylaxis to avoid infections or to mitigate their effects, such as influenza, pneumococcus, corona, whooping cough, etc.
- Genetic counseling for those wishing to have children
- Career guidance for young adults
MZ and the gallbladder
A recent analysis of a British biobank with 450,000 participants documents that people with mononucleosis (MZ) have an almost ten times higher prevalence (number of biliary tract disorders), as well as a three- to four-fold higher prevalence of non-alcoholic liver disease and an approximately six-fold higher prevalence of pathological changes in liver function. These results confirm and support the assumption that MZs also have an increased risk of gallstones.
Source: www.alpha1mz.org
Previous studies had already pointed to an increased risk of gallstones in progressive liver dysfunction – especially in men.
Source: Hepatogastroenterology, 1999; 46(29):2946-50
Gallstones are a common condition, affecting approximately 20% of all German citizens. Those affected are often unaware that they have gallstones, as symptoms in the form of biliary colic only appear when the gallstones begin to move. Typical symptoms of biliary colic include cramping pain, starting in the upper right abdomen and radiating upwards to the right shoulder – often accompanied by nausea, vomiting, and difficulty breathing.
If the pancreas is involved, complications can arise because the pancreas, whose juices are needed for the digestion of proteins, fats, and carbohydrates, and bile, whose main function is fat digestion, both empty into a single duct leading to the small intestine. A blockage can cause a life-threatening situation. Therefore, it is crucial to diagnose gallstones as early as possible.
Triggers for a gallstone attack can include fatty meals, but also anger and stress. The onset of jaundice and upper abdominal pain are always warning signs, indicating that bile can no longer flow freely. Immediate action is then necessary.
Gallstones are traditionally diagnosed using abdominal sonography, or ultrasound.
Under certain conditions (small stones, no calcium), gallstones can be therapeutically dissolved with medication or reduced in size using shock waves – both options carry the risk that smaller gallstones may begin to migrate.
Surgical removal of the gallbladder can now be performed minimally invasively using keyhole surgery and in most cases does not pose any health risks.
Impairments.
Summary: Sabine Habicht
The conclusion for MZs is:
- During ultrasound examinations of the liver, attention should also be paid to the assessment of the gallbladder.
- The mere „carrying“ or the mere presence of gallstones usually only requires dietary measures and weight normalization.
- At the first sign of gallstone-related symptoms, consider treatment – possibly surgical removal of the gallbladder.
- If you are aware that you have gallstones and experience severe symptoms, you should see a doctor promptly to have any suspicion of a gallstone problem investigated immediately to avoid potentially life-threatening complications.
