TBLs

Question 1

What are the clinical features, inheritance patterns and available treatments for Hereditary Hemochromatosis?

Answer 1

Adult onset liver cirrhosis, darkening of the skin, fatigue, joint pain, heart failure, diabetes, sexual dysfunction, increased risk of hepatocellular carcinoma. Treatment is phlebotomy to reduce iron levels. Autosomal recessive disorder caused by mutations in the HFE gene. Low penetrance.

Question 2

What two diagnostic tests are commonly used to detect HNPCC?

Answer 2

The two standard tests are Immunohistochemistry to assess the loss of expression of the Mismatch Repair proteins, or assessment of Microsattelite Instability by PCR.

Question 3

If positive for HNPCC, how often and when should colonoscopies start?

Answer 3

colonoscopy every 1-2 years at 20-25 yo or 10 years before the earliest diagnosis in the family (whichever is earlier).