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
Diagnosis
- CXR/Chest CT patterns: same as IPF
Clinical
- Clinical features are same as those of IPF
Treatment
Prognosis
- Females tend to have a more favorable prognosis
References