Blood vessel abnormalities can be challenging in dyskeratosis congenita (DC)

The international DC medical community, along with patient representatives from DC Outreach and DC Action have published an overview of newly recognised complications of DC, including stomach/bowel bleeding, bleeding at the back of the eye (retina), liver and lung complications of abnormal connections between blood vessels. Understanding underlying problems in this way is the first[…]

Low dose danazol study starts in the USA

Danazol is believed to slow down the shortening of telomeres that causes the problems associated with dyskeratosis congenita (DC). A study in 2015 appeared to support this: people treated with danazol actually had lengthening of their telomeres, as well as better blood counts,  better lungs and better liver function. Many doctors believe that low dose[…]

The importance of lung function tests revealed

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’[…]