Lungs

Lungs - Dyskeratosis Congenita

Pulmonary (lung) fibrosis is more common in people with Dyskeratosis Congenita, and in some cases can be the first indication of the disease.

Pulmonary fibrosis can be life threatening and is usually looked after by specialist chest physicians. New drugs have shown great promise in treating pulmonary fibrosis; older treatments such as prednisolone are no longer used, since they are unhelpful and could even make things worse.

Pulmonary Fibrosis Nails

Clubbing of the nails, shown here, can be a sign of pulmonary fibrosis.

Treatment of conditions such as acid reflux (dyspepsia/heartburn) can also improve matters. External factors such as smoking, pollution and exposure to certain medications (busulphan, methotrexate, long term nitrofurantoin) may increase the risk. A full list of medications which should ideally be avoided is available at pneumotox.org.

Guidelines for treating pulmonary fibrosis are available. Although these apply to all forms of pulmonary fibrosis, they are also applicable to those with dyskeratosis congenita.

CT Scan Pulmonary Fibrosis

CT scan showing pulmonary fibrosis.


 

References and Further Reading:

https://www.nice.org.uk/guidance/cg163

https://www.blf.org.uk/support-for-you/idiopathic-pulmonary-fibrosis-ipf

http://pathways.nice.org.uk/pathways/idiopathic-pulmonary-fibrosis#path=view%3A/pathways/idiopathic-pulmonary-fibrosis/managing-idiopathic-pulmonary-fibrosis.xml&content=view-node%3Anodes-offer-drugs-to-treat-idiopathic-pulmonary-fibrosis-and-withdraw-ineffective-therapies

http://www.atsjournals.org/doi/abs/10.1164/rccm.201506-1063ST