Case report
Successful Bilateral Lung Transplantation for Pulmonary Fibrosis Associated With the Hermansky-Pudlak Syndrome

https://doi.org/10.1016/j.healun.2004.11.015Get rights and content

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, a bleeding diathesis, and in a subset of patients, pulmonary fibrosis. Lung transplantation, the only curative therapy for pulmonary fibrosis, has not been previously reported as a successful treatment strategy for patients with HPS because the bleeding diathesis was thought to contraindicate major thoracic surgery. We successfully performed bilateral sequential lung transplantation in a patient with pulmonary fibrosis and HPS after transfusion of 6 units of platelets. Lung transplantation is a viable therapeutic option in patients with pulmonary fibrosis and only a mild bleeding diathesis associated with HPS.

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Case report

A 38-year-old Puerto Rican man with interstitial lung disease was referred for lung transplantation evaluation. HPS was suspected from the presence of oculocutaneous albinism and pulmonary fibrosis confirmed by video-assisted thoracoscopic lung biopsy. Neither this procedure nor 2 prior orthopedic surgeries were associated with excessive bleeding.

The patient’s oxygen saturation of hemoglobin while breathing 1 liter of oxygen at rest was 90% and decreased to 73% with minimal exertion. Pulmonary

Discussion

We successfully performed bilateral lung transplantation in a patient with Hermansky-Pudlak syndrome, a disease characterized by a bleeding diathesis and pulmonary fibrosis. In the past, several issues have prevented HPS patients from undergoing lung transplantation. First, the bleeding diathesis of HPS has been considered a contraindication to lung transplantation, as the absence of dense bodies in HPS patients’ platelets impedes the normal secondary aggregation response, resulting in bruising

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    Citation Excerpt :

    Our patient did not show any signs, symptoms, or pathologic evidence of this syndrome. Lung transplantation was first utilized as a treatment for Hermansky-Pudlak syndrome in 2005, when a patient with advanced pulmonary fibrosis received a bilateral lung transplant at Columbia University Medical Center in New York City [30]. This patient carried the same homozygous HPS1 16-bp deletion as our patient and was also of Puerto Rican ethnicity.

  • Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6

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    No drugs have been approved for clinical treatment so far. Some patients with HPS who experienced severe pulmonary fibrosis received lung transplantation; however, many challenges prevail in treating these patients in clinical practice (Lederer et al., 2005; Seward and Gahl, 2013; El-Chemaly et al., 2018). Therefore, establishing a reliable HPS diagnosis is crucial to identify HPS subtypes and formulate a long-term clinical plan to maintain candidates for lung transplantation.

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  • Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis

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    The prognosis of patients with HPS pulmonary fibrosis is poor, and approved medical therapy is not available. Patients with end-stage HPS pulmonary fibrosis succumb to progressive ventilatory failure unless they undergo lung transplantation [17, 18]. Pirfenidone, an oral anti-fibrotic drug, was investigated at the National Institutes of Health (NIH) Clinical Center as treatment for HPS pulmonary fibrosis in two clinical trials [19, 20].

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Supported in part by the Martin and Ellen Strahl Transplant Research Fund.

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