Arteriovenous (AV) malformations revealed as additional cause of lung disease in dyskeratosis congenita.
Arteriovenous (AV) malformations are joins between arteries and veins. They bypass the tiny capillaries that deliver oxygen to the tissues. Recent reports suggest that AV malformations in the lungs, as well as in the intestine, could be a problem in dyskeratosis congenita.
In the lungs, AV malformations could lead to reduced lung function (reduced DLCO and oxygen saturation). Microscopic bleeds from the AV malformations could potentially result in pulmonary fibrosis (‘scarring’ in the lungs). However, this remains to be clinically proven.
Conventional treatment for large AV malformations is by surgical embolization (‘blocking off’) of the AV malformation. However, this would not be suitable for the multiple small AV malformations seen in dyskeratosis congentia. Treatment with nintedanib might be a logical approach to this problem.
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