Review
Pulmonary involvement in Fabry's disease: A reappraisal: Follow-up of a San Diego kindred and review of the literature

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Abstract

This rather exhaustive review of pulmonary involvement in angiokeratoma corporis diffusum universale, as reported in the literature and as reflected in our three patients, was undertaken to determine whether persistent suggestions of substantial pulmonary parenchymal and vascular involvement were justified. If they were, this would be of substantial interest to all those concerned with the pathogenesis of the chronic obstructive pulmonary diseases and so-called primary pulmonary hypertension. If they were not, the record should be set straight. Our review indicates that the bulk of evidence favors the second conclusion. Pathologic evidence does exist for both pulmonary parenchymal and vascular involvement of some degree, and there is at least a suggestion that the latter may cause pulmonary arterial obstruction in some patients. Further, the possibility that hemoptysis may occasionally result from such direct vascular involvement or from angiectatic lesions in bronchi merits notation and future inspection. But beyond these limited points of interest, the available data would indicate that pulmonary involvement has little clinical or functional impact upon patients with Fabry's disease.

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    This study was supported in part by grants from the National Institutes of Health, National Heart and Lung Institute (HE 05880-02; HE 14169-01) and the John A. Hartford Foundation, Inc.

    1

    From the Pulmonary Division, Department of Medicine, University of California, San Diego, School of Medicine, La Jolla, California.

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