Excellencies - Pneumologies

Rare Diseases

Rare lung diseases are a heterogeneous group of about 300 different diseases.
A rare disease is a pathological condition that affects less than one in 2,000 people.
The recent spread of more sophisticated methods of diagnosis, such as high-resolution CT scans, has greatly improved the diagnostic sensitivity of these lung diseases.
The O.U. follows all patients with rare pulmonary diseases on an outpatient and inpatient basis, both in the diagnostic phase and in the follow-up.
The mode of access to the hospital (outpatient or hospitalization) varies according to the condition of the patient and his specific problems.
The new patients undergo, once they have read their previous clinical history and the examinations already performed, a complete evaluation of the disease for both pulmonary and extrapulmonary aspects.
The presence of more than one specialty allows for a multidisciplinary evaluation that also takes into account possible complications related to iatrogenic damage induced by therapy (e.g. endocrinological evaluation of diabetes mellitus and steroid-induced osteoporosis).

The team also collaborates and periodically compares with other external specialists to systematically examine the most complex clinical cases. Depending on the individual case, the best method of treatment is then defined and a program of follow-up (controls) is proposed over time.

The experience of the O.U. has matured over time in the diagnosis and treatment of various rare pulmonary diseases, particularly as regards:

  • Vasculitis (e.g. Wegener’s and Churg-Strauss’s granulomatosis), systemic diseases that have a better prognosis thanks to the early diagnosis and the therapies now available for lymphangioleiomatosis, almost exclusively concern the female sex, is characterized by cystic subversion of the pulmonary parenchyma as well as by the involvement of other organs (renal angiomyolipomes, meningiomas, lymphatic involvement).
  • Idiopathic pulmonary fibrosis, only affects the lungs and has a serious prognosis, and unknown etiology; requires, in cases where it is indicated, an early evaluation for lung transplantation.
  • Other idiopathic interstitial pneumonia (NSIP, DIP, COP, RB-ILD) which can lead to differential diagnosis problems with idiopathic pulmonary fibrosis. For example, the NSIP may include a manifestation of lung damage during collagen diseases (systemic diseases) that then spreads to other organs
  • Pulmonary histiocytosis with Langerhans cells, a granulomatous pulmonary disease affecting young adult smokers
  • Pulmonary arterial hypertension, causes stress dyspnea as it affects the pulmonary vascular compartment.
  • Sarcoidosis, a systemic granulomatous disease that mainly affects the lung but may also affect other organs (heart, kidney, skin, eye, etc.)