Echocardiographic assessment of pulmonary hypertension in Gaucherʹs disease

Background Enzyme therapy has been shown to decrease the signs and symptoms of Gaucherʹs disease. A few patients, however, develop pulmonary hypertension on such treatment. We investigated the frequency of pulmonary hypertension in Gaucherʹs disease. Methods We studied 134 adults with type 1 Gaucherʹs disease, including 73 patients on enzyme replacement, with echocardiography. We measured tricuspid incompetence (TI) with continuous-wave doppler. Pulmonary hypertension was indicated by a TI gradient of more than 30 mm Hg. Findings Nine (7%) patients had pulmonary hypertension: all were treated and six had undergone splenectomy. Chest radiographs confirmed the presence of pulmonary hypertension in these patients as well as in most patients with TI gradients of 25–29 mm Hg. Interpretation The confounding effects of disease severity and splenectomy in many treated patients precluded definitive conclusion of cause and effect. Nonetheless, we found an unexpectedly high rate of pulmonary hypertension and recommended routine echocardiographic monitoring of all treated and untreated patients with type 1 Gaucherʹs disease. We also suggest consideration of treatment withdrawal if the TI gradient progresses to more than 30 mm Hg.