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Introduction: Idiopathic pulmonary fibrosis (IPF) is the classic progressive fibrosing interstitial lung disease (ILD), but some patients with ILDs other than IPF also develop a progressive fibrosing phenotype (PF-ILD). Information on use and cost of healthcare resources in patients with PF-ILD is limited., Methods: We used USA-based medical insurance claims (2014-2016) to assess use and cost of healthcare resources in PF-ILD. Patients with at least two ILD claims and at least one pulmonologist visit were considered to have ILD. Pulmonologist visit frequency was used as a proxy to identify PF-ILD (at least four visits in 2016, or at least three more visits in 2016 vs. 2014)., Results: Of 2517 patients with non-IPF ILD, 15% (n = 373) had PF-ILD. Mean annual medical costs associated with ILD claims were $35,364 in patients with non-IPF PF-ILD versus $20,211 in the non-IPF ILD population. In 2016, patients with non-IPF PF-ILD made more hospital ILD claims than patients with non-IPF ILD (10.5 vs. 4.7)., Conclusions: These findings suggest higher disease severity and overall healthcare use for patients with a non-IPF ILD manifesting a progressive fibrosing phenotype (non-IPF PF-ILD).

Machado-Joseph disease (MJD) is a dominant multisystem degeneration found mostly among Azoreans and characterized by the adulthood onset of cerebellar, ocular, pyramidal, extrapyramidal, and/or peripheral signs. MJD has been recorded in many other populations, particularly in the United States and Japan. Using the microsatellite DNA polymorphisms (STRPs) D14S53, D14S55, D14S48, and D14S45, we found significantly positive lod scores in 16 Portuguese kindreds, suggesting that the MJD locus is linked to chromosome 14q in this population. Differences in age-at-onset and many untyped individuals seem to explain the lower lod scores. Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported.