Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder that is characterized by oculocutaneous albinism, bleeding diathesis, and, in some individuals, pulmonary fibrosis or immunodeficiency [1, 2]. In this report, we present a case of an adult patient who was diagnosed with HPS and pulmonary hypertension (PH). In addition, we emphasize the importance of case management in this patient who could not be easily classified into one of the PH groups.
A 54-year-old female patient was admitted to our department with progressive dyspnea. Her functional capacity was classified as New York Heart Association (NYHA) class III. She had a history of albinism, easy bruisability, and near-sightedness. On physical examination, her skin was pale, her irises were pigmented, and horizontal nystagmus was present. On echocardiography (ECHO), left ventricular ejection fraction was normal and the left atrium dilated. Additionally, pulmonary forward flow and systolic pulmonary artery pressure (sPAP) were measured as 1.3 ms and 65–70 mm Hg, respectively. There was a minimal pericardial effusion. Tests for lupus anticoagulant and factor V Leiden mutation were negative, and there was no evidence of syphilis, hepatitis B or C virus, or human immunodeficiency virus infections. Pulmonary function tests showed mild functional impairments in the forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1), and her FEV1/FVC was 89%. Pulmonary computed tomography angiography was performed, showing no filling defects in the pulmonary arteries and their branches. On cardiac catheterization, the pulmonary artery systolic mean pressure and pulmonary vascular resistance were 30 mm Hg and 5.3 Wood units. Adhesion tests to detect platelet adhesion defects in terms of HPS were studied, and all of them were positive. Macitentan was considered in this patient because of its good safety profile and efficacy [3]. After the medical treatment, her 6-minute walk test, which was 175 meters at the beginning, improved to 210 meters at 1 month and 280 meters at 3 months. There were no syncope episodes, and her N-terminal pro-B-type natriuretic peptide (NT-proBNP) values were within the normal limits, and pericardial effusion regressed on the ECHO. After 3 months, on ECHO, sPAP was 35 mm Hg (Figure 1, Supplementary material, Table S1).
Diagnosing PH can be complex and difficult in some cases [4]. HPS, also known as oculocutaneous albinism, can cause pulmonary fibrosis leading to PH. In such patients, it is not clear whether they should be classified as group 1, group 3, or group 5 PH [5]. When we searched the current literature, we could not see any comprehensive studies on this subject, which raised questions about the proper treatment approach. In our case, macitentan was given based on clinical benefit and patient satisfaction. This brings the case closer to either type 1 or type 5. Initiating specific treatment may be the first step in patients with HPS as there is no reversible etiology. The clear benefit of macitentan therapy in this patient suggests that such therapy is an effective option. We think that this case is remarkable because it shows the new etiology of PH.
Supplementary material
Supplementary material is available at https://journals.viamedica.pl/kardiologia_polska.
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