Day: January 7, 2017

Arteriovenous (AV) malformations revealed as additional cause of lung disease in dyskeratosis congenita

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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[…]

The importance of lung function tests revealed

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Pulmonary fibrosis is a serious complication of dyskeratosis congenita (DC). Lung function tests are ‘blowing tests’ where the patient blows into a machine to measure how well the lungs work. These tests can predict lung problems before they develop, which is important given the possibility of future treatments such as pirfenidone and nintedanib (see ‘Treatments’[…]