CHEST Guidelines-A-40-Year-Old-Man-With-Albinism-and-Progressive-Dy

A-40-Year-Old-Man-With-Albinism-and-Progressive-Dy

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The document discusses a case of a 40-year-old man with albinism who developed a persistent dry cough and progressive dyspnea. The patient, who was previously an avid cyclist, could no longer cycle due to his symptoms. His medical history included albinism and severe visual impairment. Diagnostic studies revealed bilateral interstitial lung infiltrates on chest radiography, and CT imaging showed reticular changes in the lungs. Pulmonary function tests indicated moderate restriction and a severe reduction in diffusing capacity.<br /><br />The diagnosis was Hermansky-Pudlak Syndrome (HPS), an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (PF), primarily associated with genetic mutations in HPS1, HPS2, and HPS4 subtypes. To confirm the diagnosis, platelet electron microscopy and genetic testing are essential.<br /><br />HPS is particularly prevalent in northwestern Puerto Rico but can be found worldwide across various ethnicities. This condition results in pigment deficiencies and an increased risk of bleeding due to lack of dense granules in platelets. Patients typically experience early-onset PF, necessitating careful monitoring and potential consideration for lung transplantation.<br /><br />Treatment with pirfenidone has been examined in clinical trials but showed conflicting results regarding its efficacy in slowing fibrosis progression. Notably, lung transplantation remains the only effective treatment for HPS-related interstitial lung disease, with successful cases reported despite previous concerns about bleeding risks.<br /><br />In this case, the patient underwent genetic testing that confirmed HPS1 with pirfenidone therapy initiated. Eventually, the patient’s condition deteriorated, requiring veno-venous and then veno-arterial extracorporeal membrane oxygenation (ECMO) support. He later underwent successful bilateral lung transplantation and was able to return to cycling and work post-transplant. The document highlights the importance of early lung transplant evaluation and special considerations regarding bleeding risks in HPS patients.

Keywords

Hermansky-Pudlak Syndrome

albinism

pulmonary fibrosis

interstitial lung disease

pirfenidone

lung transplantation

platelet dysfunction

genetic testing

extracorporeal membrane oxygenation

dyspnea