Familial idiopathic pulmonary fibrosis: clinical features and outcome.
OBJECTIVE
Familial idiopathic pulmonary fibrosis (FIPF) has been defined as idiopathic pulmonary fibrosis (IPF) occurring in two or more members of a family. The clinical course of FIPF has not been fully defined. Accordingly, the current study was undertaken to establish clinical, radiologic, and histologic features, and survival in a consecutive series of patients with FIPF.


METHODS
Retrospective analysis of clinical, radiologic, and pathologic data from a consecutive series of patients with FIPF who were seen at Mayo Medical Center. Survival in patients with FIPF was contrasted to that of previously characterized patients with nonfamilial IPF who were evaluated at our institution.


METHODS
Tertiary referral medical center.


METHODS
We screened 47 patients and family members with FIPF from 15 families who were identified between the years 1992 and 2002. We further analyzed the subgroup of FIPF patients that was composed of 27 patients from 15 families in whom the complete clinical course was monitored at our institution.


METHODS
All patients exhibited clinical features that were compatible with IPF and either compatible high-resolution CT (HRCT) scan findings or histologic evidence of usual interstitial pneumonia. Clinical data, including symptoms, physical findings, HRCT scan findings, lung function test results, biopsy results, and survival were abstracted from the clinical records.


RESULTS
Compared to patients with nonfamilial IPF, patients with FIPF did not demonstrate any notable differences in clinical, radiologic, or pathologic features. We observed that the total number of affected members in a family with FIPF was a significant risk factor for earlier mortality (p = 0.0157; hazard ratio, 1.434). Overall, however, patients with FIPF had a statistically similar outcome to those patients with nonfamilial IPF.


CONCLUSIONS
Although uncommon, FIPF represents a distinct syndrome, which has clinical features and patient survival rates that are similar to those of nonfamilial IPF.
Lee
Hong-Lyeol
HL
Division of Pulmonary Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Ryu
Jay H
JH
Wittmer
Michael H
MH
Hartman
Thomas E
TE
Lymp
James F
JF
Tazelaar
Henry D
HD
Limper
Andrew H
AH
D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D011658:Pulmonary Fibrosis / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D012129:Respiratory Function Tests; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution; D016019:Survival Analysis