In this section
@article{Marshall:2000:10.1136/thorax.55.2.143,
author = {Marshall, RP and Puddicombe, A and Cookson, WO and Laurent, GJ},
doi = {10.1136/thorax.55.2.143},
journal = {Thorax},
pages = {143--146},
title = {Adult familial cryptogenic fibrosing alveolitis in the United Kingdom.},
url = {http://dx.doi.org/10.1136/thorax.55.2.143},
volume = {55},
year = {2000}
}
TY - JOUR
AB - BACKGROUND: Familial cases of cryptogenic fibrosing alveolitis (CFA) have previously been reported; however, the prevalence and genetic background of this disorder are not known. The clinical and epidemiological findings of 25 families identified within the UK are reported. METHODS: Adult pulmonary physicians in the UK were asked to identify all families under their care in which two or more individuals had been diagnosed with fibrosing alveolitis of unknown cause. A detailed structured questionnaire was sent to each proband to delineate possible environmental/occupational exposures and to obtain complete pedigree data. Physicians were also asked to provide clinical and diagnostic information. RESULTS: Twenty five families were identified comprising 67 cases. Suitable data for analysis were available for 21 families (57 cases). The male:female ratio was 1. 75:1 (p<0.05). A high resolution computed tomographic (HRCT) scan was performed in 93% and a diagnosis of CFA confirmed on biopsy specimens in 32%. The mean age at diagnosis was 55.5 (2.5) years. Fifty percent of cases were ever smokers and 18% had been diagnosed as asthmatic. Exposure to known fibrogenic agents was recorded by 36% of patients. Clinical signs/symptoms and histological findings were indistinguishable from non-familial cases. CONCLUSIONS: This study represents the largest cohort of familial CFA cases reported to date and confirms a prevalence of 1.34 cases per 10(6) in the UK population. Although rare, such cases represent an important subgroup in which a genetic susceptibility to pulmonary fibrosis is particularly evident. Familial patients are younger at diagnosis but otherwise indistinguishable from non-familial cases. The mode of inheritance is as yet unclear but a number of genetic loci are likely to be involved and are the subject of ongoing studies.
AU - Marshall,RP
AU - Puddicombe,A
AU - Cookson,WO
AU - Laurent,GJ
DO - 10.1136/thorax.55.2.143
EP - 146
PY - 2000///
SN - 0040-6376
SP - 143
TI - Adult familial cryptogenic fibrosing alveolitis in the United Kingdom.
T2 - Thorax
UR - http://dx.doi.org/10.1136/thorax.55.2.143
UR - https://www.ncbi.nlm.nih.gov/pubmed/10639533
VL - 55
ER -
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