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Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies

¹ Department of Diagnostic Radiology, Warren G. Magnuson Clinical Center, National Institutes of Health, Bldg. 10, Rm. 1C-660, 10 Center Dr., MSC 1182, Bethesda, MD 20892-1182.
² Division of Pulmonary Critical Care Medicine, University of Florida College of Medicine, J. Hillis Miller Health Center, Rm. M-452 MSB, 1600 S.W. Archer Rd., Gainesville, FL 32610.
³ Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child and Human Development, National Institutes of Health, Bldg. 10, Rm. 9S-241, Bethesda, MD 20892.

OBJECTIVE. The objective of our study was to describe the chest radiographic and high-resolution CT findings in patients with Hermansky-Pudlak syndrome and to correlate the radiologic findings with age, causative gene, and pulmonary function.

SUBJECTS AND METHODS. Sixty-seven patients with Hermansky-Pudlak syndrome underwent high-resolution CT of the chest. A scoring system based on the extent of pulmonary involvement and specific high-resolution CT findings was used, and the findings were compared with patient age and the results of pulmonary function and genetic studies. Fifty-eight (87%) of the 67 patients also underwent chest radiography. These radiographs were compared with the high-resolution CT scans.

RESULTS. High-resolution CT was more sensitive than chest radiography in evaluating the extent of pulmonary disease in patients with Hermansky-Pudlak syndrome. All patients with mild findings on high-resolution CT scans had normal findings on chest radiographs. Common chest radiographic findings included reticulonodular interstitial pattern, perihilar fibrosis, and pleural thickening. High-resolution CT showed septal thickening, ground-glass opacities, and peribronchovascular thickening. For patients with Hermansky-Pudlak syndrome who were 30 years old or younger, high-resolution CT findings were usually minimal. Among patients who were older than 30 years, the 34 patients with HPS1 mutations had a score of 1.38±0.18 (mean±standard error of the mean) on high-resolution CT. This score is significantly greater than the score for the 11 patients without HPS1 mutations (0.36 ± 0.15) (p < 0.001). The score based on high-resolution CT findings inversely correlated with percentage of forced vital capacity and was useful in defining the progression of interstitial disease.

CONCLUSION. High-resolution CT provides a good radiologic monitor of disease status and progression in patients with Hermansky-Pudlak syndrome and correlates well with patient age, extent of pulmonary dysfunction, and genetic findings.

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