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Case Reports
. 2024 Dec 15;63(24):3353-3358.
doi: 10.2169/internalmedicine.3459-24. Epub 2024 May 9.

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone

Yoshinao Ono  1 , Naoki Tode  1 , Yuri Yamamoto  1 , Chikashi Iwasaki  1 , Shuichi Konno  1 , Hatsumi Sugiyama  1 , Takuto Endo  1 , Shunichi Takeda  1 , Shuichiro Matsumoto  1 , Tadahisa Numakura  1 , Tomohiro Ichikawa  1 , Tsutomu Tamada  1 , Hisatoshi Sugiura  1
Affiliations
Case Reports

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone

Yoshinao Ono et al. Intern Med. .

Abstract

Herein, we report a case of Hermansky-Pudlak syndrome (HPS) in which respiratory symptoms improved with pirfenidone treatment. A 43-year-old Japanese woman with oculocutaneous albinism presented with a cough and dyspnea. High-resolution computed tomography revealed areas of reticular and frosted lung opacities. The diagnosis of HPS was confirmed by a prolonged bleeding time and HPS1 gene mutation. Generally, there is no effective treatment for interstitial pneumonia associated with HPS except for lung transplantation. In the present case, the cough and dyspnea improved with pirfenidone administration. Therefore, clinicians should administer pirfenidone in challenging transplantation cases and during the waiting period for transplantation.

Keywords: HPS1; Hermansky-Pudlak syndrome; interstitial pneumonia; pirfenidone.

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Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure 1.
Figure 1.
(a) The skin appears pallid, and there is no evidence of sunburn. (b) The hair is chestnut brown.
Figure 2.
Figure 2.
Illustration of ocular findings revealing the loss of iris pigmentation.
Figure 3.
Figure 3.
A chest radiograph showing relatively uniform faint ground-glass opacities extending from the upper to lower lung fields on both sides, accompanied by a reduction in the lung volume.
Figure 4.
Figure 4.
High resolution computed tomography (HRCT) of the chest. (a) Uniform ground-glass opacities distributed from the upper to lower lobes of both lungs, with centrally elevated density along the bronchovascular bundle and shadows indicating the partial destruction of the alveolar structures. (b) Subpleural regions are spared, and honeycombing is not observed.
Figure 5.
Figure 5.
Cytological images of a Transbronchial Lung Biopsy (TBLB) obtained from the right B8a. (a, Hematoxylin and Eosin staining, ×100) Mild lymphocytic infiltration and foamy cells are observed, with no evidence of histiocytes, lymphoid follicles, or ceroid-like deposits. (b, Elastica Masson staining, ×200) Fibroblast foci are formed, filling the alveolar spaces.
Figure 6.
Figure 6.
A graph showing the development of the serum KL-6 and SP-D levels after pirfenidone administration. The orange and blue lines indicate KL-6 and SP-D, respectively.
See this image and copyright information in PMC

References

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