Correspondence

Gaucher Cells in Pulmonary-Capillary Blood in Association with Pulmonary Hypertension

N Engl J Med 1997; 336:379-381January 30, 1997

Article

To the Editor:

Although pulmonary involvement in adult-type Gaucher's disease (type 1) is unusual, as compared with the infantile type (type 2), previous reports have described aggregations of Gaucher cells within the alveolar spaces and interstitium in association with bilateral diffuse reticulonodular infiltrates.1 Gaucher cells have rarely been reported to occlude pulmonary capillaries, with resulting pulmonary hypertension.2 The hepatopulmonary syndrome, as manifested by intrapulmonary shunting and hypoxemia, may also complicate type 1 Gaucher's disease. Alglucerase, a modified human placental β-glucocerebrosidase, is not known to cause pulmonary hypertension, although antibodies to the enzyme have been reported in patients treated with the drug.3 We describe a patient with type 1 Gaucher's disease and pulmonary hypertension in whom we identified Gaucher cells in pulmonary-capillary blood drawn from a catheter in the wedged position.

A 28-year-old Jewish woman with type 1 Gaucher's disease who was receiving alglucerase presented with dyspnea and lightheadedness. An examination showed jugular V waves, a parasternal lift, a grade 1/6 tricuspid regurgitant murmur, and an accentuation of the pulmonic component of S₂; the lung fields were clear. Hepatomegaly extending to the pelvic brim was noted. A chest film was normal except for prominence of the main pulmonary artery. Electrocardiography demonstrated type A right ventricular hypertrophy. Echocardiography demonstrated a D-shaped left ventricle and trace tricuspid regurgitation, with an estimated pulmonary systolic pressure of 75 mm Hg and intrapulmonary shunting. Pulmonary-function testing showed a mild restrictive ventilatory defect (forced vital capacity, 76 percent; corrected single-breath diffusing capacity for carbon monoxide, 61 percent of the predicted value). The values for arterial-blood gases and alveolar–arterial oxygen were normal. Catheterization studies showed precapillary pulmonary hypertension (Table 1Table 1Base-Line Hemodynamic Values in a Patient with Type 1 Gaucher's Disease.), which was unaffected by an incremental infusion of epoprostenol sodium.

A 10-ml sample of pulmonary-capillary blood was aspirated from a Swan–Ganz catheter during balloon occlusion in the wedged position and preserved in EDTA. Typical large, polyhedral Gaucher cells with cytoplasm resembling crinkled tissue paper were identified in buffy-coat smears, with positive staining for iron and acid phosphatase (Figure 1Figure 1Buffy-Coat Smear of Pulmonary-Capillary Blood, Showing a Gaucher Cell with Crinkled-Tissue-Paper Cytoplasm, Surrounded by Large Megakaryocytes and Platelets. and Figure 2Figure 2Gaucher Cell That Has Retained Acid Phosphatase Stain after Treatment with Tartrate (×1000).).

In Gaucher's disease, reticuloendothelial cells with abnormal accumulations of glycosylceramide may infiltrate the liver, spleen, lymph nodes, bone marrow, and in rare cases, the lungs; however, we are unaware of the presence of these cells in the circulation. Our findings may suggest vaso-occlusion with Gaucher cells as the mechanism for precapillary pulmonary hypertension. Similar hemodynamic sequelae have been described in association with tumor embolism and have also been identified by aspiration cytologic studies of pulmonary-capillary blood.4 Cytologic studies of pulmonary-capillary blood in patients with Gaucher's disease may further our understanding of the protean pulmonary manifestations of this disorder.

David J. Ross, M.D.
Susanne Spira, M.D.
Neil A. Buchbinder, M.D.
Cedars–Sinai Medical Center, Los Angeles, CA 90048

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Citing Articles (8)

Citing Articles

1. 1

   Sarah Michelman Lo, Jun Liu, F. Chen, G. M. Pastores, J. Knowles, M. Boxer, Kirk Aleck, Pramod K. Mistry. (2011) Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. Journal of Inherited Metabolic Disease 34:3, 643-650
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2. 2

   Christine Kim Garcia, Ganesh Raghu. (2004) Inherited interstitial lung disease. Clinics in Chest Medicine 25:3, 421-433
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3. 3

   Pramod K Mistry, Sandra Sirrs, Alicia Chan, Mark R Pritzker, Thomas P Duffy, Marie E Grace, David P Meeker, Martin E Goldman. (2002) Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics and Metabolism 77:1-2, 91-98
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   Marc Humbert, Hilario Nunes, Olivier Sitbon, Florence Parent, Philippe Hervé, Gérald Simonneau. (2001) RISK FACTORS FOR PULMONARY ARTERIAL HYPERTENSION. Clinics in Chest Medicine 22:3, 459-475
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   Gail Amir, Noemi Ron. (1999) Pulmonary pathology in Gaucher's disease. Human Pathology 30:6, 666-670
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   N Sakura, N Mizoguchi, H Ueda, A Fujita. (1999) Clinical significance of Gaucher cells in cerebrospinal fluid. Acta Paediatrica 88:1, 104-105
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   N Belmatoug, O Launay, C Carbon. (1998) Pulmonary hoypertension in type 1 Gaucher's disease. The Lancet 352:9123, 240
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   Deborah Elstein, Marc W Klutstein, Amnon Lahad, Ayala Abrahamov, Irith Hadas-Halpern, Ari Zimran. (1998) Echocardiographic assessment of pulmonary hypertension in Gaucher's disease. The Lancet 351:9115, 1544-1546
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