Iron Overload Syndrome Flashcards
1
Q
What is the genetic mutation on hereditary hemochromatosis?
A
C282Y mutation in the HFE gene
2
Q
What are some complications of HH?
A
Liver cirrhosis Cardiomyopathy Arthritis Diabetes mellitus Other endocrinopathies involving the pituitary or adrenal
3
Q
What joints are commonly affected by HH?
A
2nd and 3rd MCP joints
4
Q
What is the first test to be ordered in a patient with suspected HH?
A
Transferrin saturation and ferritin
Tsat greater then 45% and elevated ferritin should prompt diagnosis by genetic testing
5
Q
What is the HH?
A
Phlebotomy with a target ferritin goal of 50 to 100ng/ml
