Pulmonary involvement is relatively common in patients with Gaucher's Disease.
Types of involvement:
(1) alveolar macrophages, which can result in consolidation in alveolar spaces
(2) interstitial lung disease, which can lead to interstitial fibrosis
(3) pulmonary hypertension
(4) hepatopulmonary syndrome
Risk factors for pulmonary disease:
(1) more severe phenotypes
(2) kyphoscoliosis
(3) hepatosplenomegaly
Clinical manifestations may include:
(1) cough
(2) wheezing
(3) exercise intolerance and fatigue
(4) dyspnea
(5) recurrent lung infections
(6) clubbing or cyanosis
Risk factors for pulmonary hypertension:
(1) status post splenectomy
(2) females
(3) pregnancy
(4) associated with GD1
Risk factorsfor hepatopulmonary disease:
(1) status post splenectomy
(2) associated with marked hepatomegaly
