Inborn errors of metabolism affecting connective tissue Flashcards
1
Q
Skeletal manifestations of Gaucher disease?
A
Long bone or hip/shoulder pain from osteonecrosis or bony infarctions, and back pain from osteoporosis with fractures.
2
Q
Most common presenting manifestation of Gaucher disease?
A
Splenomegaly with hypersplenism.
3
Q
How would you confirm Gaucher disease?
A
Confirmed by an abnormal leukocyte acid B-glucosidase assay.
4
Q
Why is it important to diagnose Gaucher disease, which is rare?
A
It can be treated with infused enzymes, oral meds that decrease substrate synthesis resulting in less glucosylceramide accumulation, or bone marrow transplant.
