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General Internal Medicine
Genetic Liver Disease
Questions discussed in this category
What parameters would you use to monitor and interpret iron levels in a hemochromatosis patient where ferritin is unreliable due to underlying chronic inflammation?
How would your recommendation change if the patient has H63 homozygous mutation?
2 Answers available
What is your approach for patients with recurrent nephrolithiasis who you have a strong suspicion for primary hyperoxaluria though genetic testing returns without any abnormalities?
1 Answer available
How do you manage significant asymptomatic indirect hyperbilirubinemia in patients with hemolytic diseases (SCD, HS, etc.)?
Do you consider starting Ursodiol? Do you perform routine abdominal ultrasound to monitor for cholelithiasis?
1 Answer available
What is the indication for phlebotomy in compound heterozygous hemochromatosis?
What is the ferritin target that you would aim for? What would be your approach for a ferritin >500? When do you order an MRI liver for iron quanti...
1 Answer available
Would you treat a hemochromatosis carrier with IV iron if they have iron deficiency anemia in conjunction with elevated ferritin?
Hb <11, low iron saturation (<10%), high ferritin (>900), and low reticulocyte hemoglobin equivalent.
1 Answer available
How do you diagnose sickle hepatopathy?
1 Answer available
How do you assess transaminitis in a patient with sarcoidosis with known liver involvement being treated with methotrexate?
1 Answer available
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