Familial Idiopathic Pulmonary Fibrosis

Epidemiology

  • Patients usually present between ages 20-40
  • The younger the age of presentation, the more aggressive the disease
  • Sex: M: F ratio is 1: 1.23

Etiology

  • Autosomal dominant (with decreased penetrance)
  • Genetics: linkage analysis suggests link between familial IPF and Ig gamma (Gm) phenotype/ chromosome 14 may play a role (increased incidence of non-MM protease inhibitor phenotype, particularly MZ)/ possibly increased incidence of HLA-B8, HLA-B12, HLA-Dw6, HLA-DR2 and possibly decreased incidence of HLA-Dw3
  • Family members of affected cases: have alveolar inflammation, positive Gallium scans, increased numbers of neutrophils and activated macrophages

Physiology

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Diagnosis

  • CXR/Chest CT patterns: same as IPF

Clinical

  • Clinical features are same as those of IPF

Treatment

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Prognosis

  • Females tend to have a more favorable prognosis

References

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