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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
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Gaucher Disease
Gaucher's disease
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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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Gaucher's disease: an unusual cause of intrathoracic extramedullary hematopoiesis
From CHEST, 12/1/93 by Ian Y. Ch'en

Gaucher's disease is an uncommon familial disorder characterized by deficiency of beta-glucosidase, a lysosomal enzyme responsible for the degradation of glucosyl ceramide (glucocerebroside). This biochemical defect leads to glucocerebroside-laden histiocytes (Gaucher cells) which assume distinctive morphologic features in systemic organs. Deposits of Gaucher cells typically accumulate in the spleen, liver, bone marrow, lymph nodes, and in some cases, the brain and lung.[1] While Gaucher cells may infiltrate the lung and extramedullary hematopoiesis invariably involves the spleen and liver, intrathoracic extramedullary hematopoiesis has not been previously described in Gaucher's disease.


A 74-year-old woman presented with a one-month history of dry cough recently productive of a small amount of white sputum. She denied fever, chills, weight loss, and dyspnea. Gaucher's disease had been diagnosed on bone marrow aspirate ten years earlier when she presented with a prolonged bleeding time, thrombocytopenia, and purpura. She had no other signs or symptoms referable to this disorder except for transient elevation of liver enzymes and mild splenomegaly discovered 2 years prior. Other past medical history included stage la ovarian adenocarcinoma 11 years earlier, without evidence of recurrence following hysterectomy and bilateral salpingooophorectomy.

Physical examination revealed a well-appearing woman with normal vital signs and in no apparent discomfort. The lung examination was normal, and there was no detectable lymphadenopathy or abdominal organomegaly. Examination of her skin disclosed a few purpuric lesions and petechiae.

Laboratory data including hematocrit value, erythrocyte indices, and morphologic findings, white blood cell and platelet counts, and liver enzyme levels were within the normal range. Pulmonary function tests showed mild reversible airway dysfunction but normal lung volumes and diffusing capacity for carbon monoxide. The chest radiograph showed a new, discrete 2-cm paraspinal mass at the level of the ninth thoracic vertebra which was confirmed by computed tomography (Fig 1). No parenchymal lung disease or lymphadenopathy was present. Percutaneous computed tomography-guided fine needle aspiration of the paravertebral mass showed Gaucher cells as well as megakaryocytes and immature red blood cells, findings representing extramedullary hematopoiesis (Fig 2). The patient's cough responded to inhaled bronchodilators.


Gaucher's disease is an inborn error of metabolism with several genetically distinct clinical types. At least three forms are described,[2] and all may demonstrate lung parenchymal abnormalities. The adult form (type 1, chronic nonneuronopathic type) may present in infancy or adulthood, typically showing anemia, thrombocytopenia, splenomegaly, and bone lesions. Although somewhat variable, the course is relatively benign. The present case depicts this form. The rarer infantile form (type 2, acute neuronopathic type) is malignant, demonstrating progressive neurologic symptoms and death from respiratory infection by age 2 years. An intermediate juvenile form (type 3, subacute neuronopathic type) consists of a heterogeneous patient group demonstrating reticuloendothelial involvement as well as progressive neurologic deterioration characteristic of the infantile form. This type also exhibits an aggressive course resulting in hepatosplenomegaly and early death.

Intrathoracic Gaucher's disease typically affects the lung and is characterized histologically by extensive infiltration of interlobular septa, alveolar spaces, and terminal bronchioles by iron-laden Gaucher cells. It correlates roentgenographically with a diffuse reticulonodular or miliary parenchymal pattern.[3,4] The diffuse pulmonary infiltration, absent in the present case, affects a small minority of patients. We could find no documentation in the literature of a discrete intrathoracic mass due to Gaucher's disease, except for a single case of mediastinal lymph node enlargement.[5]

Intrathoracic extramedullary hematopoiesis causing a round or lobulated posterior mediastinal mass is uncommon, having only 35 cases in the literature as of 1985.[6] occurs as a compensatory response to disruption of normal bone marrow function. The overwhelming majority are related to destruction of erythrocytes (eg, hereditary spherocytosis, thalassemia, congenital hemolytic anemia, sickle cell anemia) or bone marrow insufficiency (eg, myelofibrosis, carcinomatosis, or lymphomatosis of bone marrow). Such cases are often but not always associated with splenomegaly and hypersplenism. This patient's presentation is atypical because of a normal hematocrit value and red blood cell morphologic findings.

The presence of intrathoracic extramedullary hematopoiesis should be suspected in a patient with known Gaucher's disease who has a thoracic paravertebral mass. Although such masses usually are asymptomatic, paraplegia due to cord compression by paravertebral extramedullary hematopoiesis from other etiologies has been reported. In the proper clinical setting, a combination of noninvasive imaging modalities, including computed tomography, radionuclide scanning,[7] or magnetic resonance imaging,[6] or all three, may be definitive in the diagnosis of intrathoracic extramedullary hematopoiesis. In difficult cases, however, tissue biopsy or aspiration is confirmatory.


[1] Lee RE, Peters SP, Glew RH. Gaucher's disease: clinical, morphologic, and pathogenetic considerations. Pathol Annu 1977; 2:309-39 [2] Kolodny EH. Gaucher disease. In: Wyngaarden JB, Smith LH, Bennett JC, eds. Cecil textbook of medicine. 19th ed. Philadelphia: WB Saunders, 1992; 1091-93 [3] Schneider EL, Epstein CJ, Kaback MJ, Brandes D. Severe pulmonary involvement in adult Gaucher's disease: report of three cases and review of the literature. Am J Med 1977; 63:475-80 [4] Fisher MR, Sider L. Roentgenogram of the month: diffuse reticulonodular infiltrate associated with splenomegaly. Chest 1983; 84:609-10 [5] Myers B. Gaucher's disease of lungs. Br Med J 1937; 2:8-10 [6] Savader SJ, Otero RR, Savader BL. M R imaging of intrathoracic extramedullary hematopoiesis. J Comput Assist Tomogr 1988; 12:878-80 [7] Adams BK, Smuts NA. The detection of extramedullary hematopoiesis in a patient with osteopetrosis. Eur J Nucl Med 1989; 15:803-04 (*) From Department of Radiology (Drs. Ch'en and Lynch), Pathology (Dr. Shroyer), and Division of Pulmonary Sciences and Critical Care Medicine (Dr. Schwarz), University of Colorado Health Sciences Center, Denver.

COPYRIGHT 1993 American College of Chest Physicians
COPYRIGHT 2004 Gale Group

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