is an inherited lysosomal storage disorder secondary to a
defect in acid beta-glucosidase and subsequent
glycoshpingolipid deposition in hematopoietic organs
including the bone marrow, spleen and liver. The
abnormal lipid deposition can be seen in blood
macrophages [Gaucher cells] and causes displacement of
healthy, normal cells in the spleen and. With organ
enlargement and dysfunction. With deposition in the
bone marrow there is faulty marrow production of normal
blood elements leading to anemia and thrombocytopenia.
Expansion of the bone marrow with these abnormal
and biochemical changes leads to skeletal
deteriorization and risk of bone marrow infarction,
avascular necrosis, fracture and pain. There may be
growth retardation or short statue.
Clinical features are extremely variable in each patient
and even within a family various members can exhibit a very
different clinical problems and course. Some individuals
are mildly affected and have little or no health problems. For others, Gaucher
disease can be a progressive condition. Close medical follow-up with periodic
assessment is appropriate for those with Gaucher disease throughout their
The quality of life for persons with Gaucher disease
can be compromised by fatigue and pain and lead to inability to attend to
work or school responsibilities. This chronic disease can have impact on
social and family relationships.
This multi-system variable disease can present with
a wide range of symptoms and may be not recognized and/or misdiagnosed.
Frequent misdiagnoses include: leukemia, lymphoma, rheumatoid arthritis