Alpha 1 Connective Tissue & Aneurysm
Some of you have been diagnosed with the Ehlers-Danlos syndrome, which is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause symptoms, which range from mildly loose joints to life-threatening complications.
ELS is known to be a Genetic defect on its own, and does not need to be related to an Alpha1 Antitrypsin deficiency.
However, Alpha1 Antitrypsin deficiency is also known to have an impact on connective tissue, which can cause similar effects as described above, because Alpha1 Antitrypsin is important in remodeling and repair of the connective tissue
Extract out of a paper;
“AAT inhibits elastase, which is important in the process of remodeling and repair of the connective tissue. Elastase production increases with inflammation, and an individual with an MZ genotype will have increased degradation of the connective tissue matrix, leading to decreased joint stability”
The link to the paper is here
Conclusion, when you are diagnosed with ELS, and the gene tests are not conclusive, you may experience the effect of Alpha1 Antitrypsin on your connective tissue, and you may want to discuss this with your doctor.
Besides the decreased joint stability, there may be also life threatening conditions caused by Alpha1 related connective tissue issues, like when it affects your Coronary Artery. (Especially when you are getting older)
A paper states; “In patients with AATD, the lack of Neutrophil Elastase inhibition and overactivity of proteases can degrade elastin and connective tissues, leading to a loss of elasticity in vessel walls, increased stiffness, and reduced distensibility. This can result in aortic wall weakening and aortic distention" There is an abundance of evidence reporting the protective role of AAT in preserving arterial wall integrity.”
“Data show there is a pathological association between AAT and the development of aortic distention, with age as a driving factor. AAT is genetically highly polymorphic with multiple alleles influencing serum levels, and its functionality. A pathological association is evident between different AAT alleles, with respect to vascular disease and the coexistence of emphysema, as well as aortic and cerebral aneurysms. It is, therefore, important to consider the expanding scope of AATD, and patients with this condition should be monitored for cardiovascular implications.”
Find this paper here
In short simple terms, your blood vessels will lose their flexibility (become more stiff / brittle) so it become more easy to “crack”. (Just think about an old garden hose, which snaps open because it lost its flexibility)
When this happens in your main blood vessels, it is game over. We were informed by an Alpha1 MZ that they lost many (older) family members this way.
Conclusion, when you are getting older and you are an Alpha 1, it would be good to monitor for aortic aneurysms on a regular basis.