5.3a. Clinical Symptoms



Photo courtesy of Dr. Kaplan.
Sidransky E. Disco Med. 2012;14:273-81; Grabowski GA. Lancet. 2008;372:1263-71; Mehta A. Eur J Intern Med. 2006;17:S2-5; Kaplan P, et al. Arch Pediatr Adolesc Med. 2006;160:603-8; Mistry P K. Blood Cells Mol Dis. 46:66-72; 2011. [Epub Nov 26 2010].

The clinical symptoms of type 1 Gaucher Disease prominently involve the bones, and this takes the form of marrow infiltration as shown here, osteopenia and osteoporosis, fractures, avascular osteonecrosis, osteosclerosis. These manifestations can be debilitating, with chronic pain which can sometimes be misdiagnosed as growing pain, and acute avascular osteonecrosis is one of the most painful episodes in the lives of patients which can go on for several weeks requiring narcotic analgesics. 





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