Key points

  • Orphan diseases are those that are not widely researched: they need not be rare. Likewise, not all rare diseases are orphans.
  • Rare lung diseases may involve the lung only or multiple organs.
  • Patients’ associations are often a lifeline for people with rare lung diseases, providing a sense of community and advocating for better treatment.
  • Governments have provided incentives for pharmaceutical companies to develop treatments for rare and orphan diseases; however, drug prices are often high.
  • Doctors lack experience of many rare lung diseases, but all respiratory physicians should ensure they have some clinical and scientific knowledge of the field and are open-minded about diagnosis.

See the entire Rare and orphan lung diseases Chapter