Acid β-glucosidase
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Gaucher's disease

Gaucher disease (pronounced "Go-shay") is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow spots in the eyes. Persons affected most seriously may also be more susceptible to infection. more...

Gardner's syndrome
Gastric Dumping Syndrome
Gastroesophageal reflux
Gaucher Disease
Gaucher's disease
Gelineau disease
Genu varum
Geographic tongue
Gerstmann syndrome
Gestational trophoblastic...
Giant axonal neuropathy
Giant cell arteritis
Gilbert's syndrome
Gilles de la Tourette's...
Gitelman syndrome
Glanzmann thrombasthenia
Glioblastoma multiforme
Glucose 6 phosphate...
Glycogen storage disease
Glycogen storage disease...
Glycogen storage disease...
Glycogenosis type IV
Goldenhar syndrome
Goodpasture's syndrome
Graft versus host disease
Graves' disease
Great vessels transposition
Growth hormone deficiency
Guillain-Barré syndrome

The disease affects males and females equally. It is the most common lysosomal storage disease. It is named after the French doctor who originally described it in 1882.


Gaucher disease has three common clinical subtypes. Type 1 (or nonneuropathic type) is the most common form of the disease. It occurs most often among persons of Ashkenazi Jewish heritage. Symptoms may begin early in life or in adulthood and include enlarged liver and grossly enlarged spleen, which can rupture and cause additional complications. Skeletal weakness and bone disease may be extensive. The brain is not affected, but there may be lung and, rarely, kidney impairment. Patients in this group usually bruise easily and experience fatigue due to low blood platelets. Depending on disease onset and severity, type 1 patients may live well into adulthood. Many patients have a mild form of the disease or may not show any symptoms. Type 2 (or acute infantile neuropathic Gaucher disease) typically begins within 3 months of birth. Symptoms include an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders, spasticity, seizures, limb rigidity, and a poor ability to suck and swallow. Affected children usually die by age 2. Type 3 (the chronic neuronopathic form) can begin at any time in childhood or even in adulthood. It is characterized by slowly progressive but milder neurologic symptoms compared to the acute or type 2 version. Major symptoms include an enlarged spleen and/or liver, seizures, poor coordination, skeletal irregularities, eye movement disorders, blood disorders including anemia and respiratory problems. Patients often live to their early teen years and often into adulthood.

Signs and symptoms

  • Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml.
  • Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombopenia (with an increased risk of infection and bleeding)
  • Cirrhosis of the liver is rare
  • Neurological symptoms occur only in some types of Gaucher's (see below):
    • Type II: serious convulsions, hypertonia, mental retardation, apnea.
    • Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
  • Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. Erlenmeyer flask deformity of the distal femur.
  • Yellowish-brown skin pigmentation
  • No cardiac, renal and pulmonary signs


In populations with high rates of carriage (Ashkenazi Jews and Norrbottnian Swedes), some family members of the index patient may already have been diagnosed with Gaucher's. Truly sporadic cases may suffer diagnostic delay due to the protean symptoms.


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IV Epoprostenol in Gaucher's Disease
From CHEST, 6/1/00 by Deborah Elstein

To the Editor:

We read with interest the article by Bakst et al (October 1999),[1] reporting the use of continuous IV epoprostenol in a patient with Gaucher's disease with pulmonary hypertension. The effective use of this therapeutic modality is encouraging. Pulmonary hypertension in patients with Gaucher's disease may be secondary to the effects of interstitial lung involvement or intercapillary plugging by Gaucher cells,[2] or primary-like, in association with enzyme replacement therapy.[3] Enzyme therapy may ameliorate pulmonary disease, including improvement in secondary pulmonary hypertension, as was initially observed in the cited case. Later reappearance of pulmonary hypertension may be associated with enzyme treatment.

We have a similar case of a 34-year-old woman who had undergone splenectomy, who presented with hypoxia and a tricuspid incompetence (TI) gradient of 27 mm Hg. After 3 years on enzyme therapy with improvement in hypoxemia, clubbing, and pulmonary function tests, the TI gradient dropped to 20 mm Hg (within the normal range). After 2 more years of treatment, she developed elevation of TI gradient to 37 mm Hg. We also documented another patient with Gaucher's disease, who started enzyme therapy with a TI gradient within the normal range, which then rose above 30 mm Hg with treatment with the placental derivative, alglucerase, and then returned to the normal range after withdrawal.[4] Challenge with the recombinant form, imiglucerase, resulted in elevation of the TI gradient above 30 mm Hg, and treatment withdrawal again resulted in return to the normal range.

Continued use of enzyme replacement (and in very high dosage) in the case by Bakst et al[1] could have been the cause of the reemergence of pulmonary hypertension, and enzyme withdrawal might be considered to wean her from lifelong dependence on epoprostenol. On the other hand, the success of epoprostenol may be of greater importance to patients who have other life-threatening features of Gaucher's disease and who cannot, therefore, terminate enzyme therapy. We applaud the pioneering efforts of Bakst et al,[1] as like them, we are concerned with the increased number of patients with Gaucher's disease who develop pulmonary hypertension. In addition, we concur that echocardiography should be included in routine follow-up of all Gaucher patients, treated and untreated, despite the fact that, in recent guidelines for diagnosis and monitoring by the International Collaborative Gaucher Group registry, this procedure was unfortunately omitted.[5]

Deborah Elstein, PhD Ari Zimran, MD Shaare Zedek Medical Center Jerusalem, Israel

Correspondence to: Ari Zimran, MD, Shaare Zedek Medical Center, P. O. Box 3235, Jerusalem 91031; Israel; e-mail:


[1] Bakst AE, Gaine SP, Rubin LJ. Continuous intravenous epoprostenol therapy for pulmonary hypertension in Gaucher's disease. Chest 1999; 116:1127-1129

[2] Amir G, Ron N. Pulmonary pathology in Gaucher's disease. Hum Pathol 1999; 30:666-670

[3] Harats D, Pauzner R, Elstein D, et al. Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy. Acta Haematol 1997; 98:47-50

[4] Elstein D, Klutstein MW, Lahad A, et al. Echocardiographic assessment of pulmonary hypertension in Gaucher's disease. Lancet 1998; 351:1544-1546

[5] Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998; 158:1754-1760

To the Editor:

We appreciate the comments by Drs. Elstein and Zimran. In light of their work suggesting a role for enzyme replacement in the pathogenesis of pulmonary hypertension in Gaucher's disease, we did indeed discontinue enzyme therapy; however, during this interval off enzyme replacement, our patient experienced worsening hepatomegaly, which subsided upon reinstitution of replacement therapy.

Lewis J. Rubin, MD, FCCP UCSD Healthcare San Diego, CA

Correspondence to: Lewis J. Rubin, MD, FCCP, Professor of Medicine, Director, Division of Pulmonary/Critical Care Medicine, UCSD Healthcare, 200 West Arbor Dr, San Diego, CA 92103-8372; e-mail:

COPYRIGHT 2000 American College of Chest Physicians
COPYRIGHT 2000 Gale Group

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