Table 12.
Pathologic findings in Gaucher disease
| SPLEEN-Gross |
| •May be more than 20 times the normal size and have hard texture and surface nodules |
| •Range from deep red (normal) to purple (extramedullary hematopoiesis) to yellow (old infarcts) |
| SPLEEN-Microscopic |
| •Accumulation of Gaucher cells |
| •Fibrosis |
| •Infarcts that account for up to 25% – 50% of a massively enlarged spleen |
| LIVER-Gross |
| •Yellow-brown discoloration |
| •Areas of extramedullary hematopoiesis |
| •Nodules may be present in areas of infarction or Gaucher cell infiltration |
| LIVER-Microscopic |
| •Gaucher cells in the sinusoids and in parenchymal nodules |
| •Fibrosis may be present |
| CENTRAL NERVOUS SYSTEM (CNS) |
| •Spinal cord compression secondary to vertebral collapse |
| •Bleeding due to coagulopathies can cause CNS damage |
| •In type 2 Gaucher disease, Gaucher cells can be seen within the brain parenchyma, especially within occipital lobes |
| including the Virchow Robin spaces of the cortex, deep white matter, gray matter of the thalamus and subependymal |
| tissue of the pons and medulla |
| •Neuronophagia is prominent in the cortex, midbrain nuclei, basal ganglia, brainstem, and dentate nucleus |
| •Neuronal loss is widespread in type 2; the dentate nucleus is severely involved as well as hipocampal layers CA2-4. |
| •PAS-positive inclusions may be seen |
| HEMATOLOGIC FINDINGS |
| •Bleeding secondary to thrombocytopenia, factor XI or factor IX deficiency |
| •Thrombocytopenia due to splenic sequestration; responds to splenectomy |
| •Anemia (normocytic, normochromic); usually mild, with hemoglobin > 8 mg/dL but can be severe |
| •Marrow replacement |
| •Leukopenia |
| •Acquired von Willebrand factor deficiency |
| •Gaucher cells in marrow |
| •Increased iron storage |
| •Increased incidence of multiple myeloma |
| •Necrosis, yellow discolored areas of bone marrow replacement |
| LUNG |
| •Rarely, pulmonary failure may result from infiltration by Gaucher cells, or right to left shunting |
| •Pathology can be interstitial infiltration, alveolar consolidation, or capillary plugging by Gaucher cells |
| •Pulmonary hypertension can develop |
| OTHER PATHOLOGIC FINDINGS |
| •Osteoporosis |
| •Lymph node involved with Gaucher cells |
| •Thymus, Peyer patches, adenoids, and tonsils can be involved |
| •Brown masses of Gaucher cells have been reported in the eye at the corneoscleral limbus |
| •Gaucher cells have been found in a colonic polyp and the maxillary sinus |
| •Type 2 patient autopsies show severe infiltration of the adrenal gland |
| •Rare Gaucher cells have been found in the renal glomerular tufts and renal interstitium |
| •Tubular inclusions have been seen in endothelial cells lining glomerular and interstitial capillaries |
| BIOCHEMICAL ABNORMALITIES |
| •Marked deficiency of lysosomal glucocerebrosidase in leukocytes, fibroblasts, or tissues |
| •Elevated plasma tartrate-resistant acid phosphatase |
| •Decreased or elevated plasma cholesterol |
| •Increased plasma angiotensin converting enzyme |
| •Increased plasma chitotriosidase |
| •Increased plasma glucocerebroside and glucosylsphingosine |