Macitentan in the treatment of pulmonary hypertension in Gaucherls disease.

Gaucher’s disease (GD) is a rare disease characterized by a lysosomal β glucosidase enzyme deficiency. Although the etiology of pulmonary hypertension in this condition cannot be clearly determined, the disease itself, splenectomy treatment and enzyme treatment are blamed for it. Upon a physiopathological examination, it is emphasized that the vaso-occlusion caused by Gaucher cells may be the mechanism of precapillary pulmonary arterial hypertension (PAH) observed in GD (1). Although the World Health Organization (WHO) classification is similar to Group 1 PAH, PAH due to GH or splenectomy is considered the WHO Group 5. Macitentan is an orally active agent having effect on the endothelin A (ET-A) and endothelin B (ET-B) receptor. It inhibits the endothelin-mediated activation of second messenger systems resulting in vasoconstriction and smooth muscle cell proliferation. It is unclear how it (Macitentan) benefits from mortality and morbidity in patients with the functional capacity Class II-III in the WHO Group 1 PAH patients (2). Since it is a very rare condition, there are limited data in the literature regarding the treatment of pulmonary hypertension in patients with GD. Although macitentan, is an effective agent in the WHO Group 1 pulmonary hypertension, it was evaluated whether it would contribute to the treatment of GD.