7/24/18 Resident Morning Report

PGY3 Ravi Kankotia presented a case of a 60 yo M with recently diagnosed B-ALL s/p induction therapy who presented with acute liver injury and was found to have secondary hemochromatosis due to multiple blood transfusions.

Causes of iron overload:
1. Increased intake due to repeated transfusions, excessive iron supplementation
2. Increased absorption due to HFE gene mutation (Hereditary Hemochromatosis), ineffective erythropoiesis causing increased intestinal iron absorption (mechanism unclear; occurs in thalassemias/sideroblastic anemia)
3. Acute/chronic liver disease due to release of storage iron from damaged liver cells

Clinical Manifestations:
1. Abnormal liver function tests and eventually cirrhosis
2. Dilated cardiomyopathy, conduction defects
3. Diabetes mellitus
4. Pituatary involvement -> hypogonadism
5. Hyperpigmentation of skin (bronze diabetes)
6. Arthropathy, specifically involving 2nd/3rd MCP joints

Screening/Diagnosis
-Screening for iron overload using serum ferritin is recommended in patients with rare anemias and a history of >20 RBC transfusions.
-Screening for patients receiving transfusions for other reasons such as chemotherapy or trauma are less clear.
-AASLD Guidelines suggest checking transferrin saturation and ferritin in patients with suggestive symptoms, physical findings or family history. If TS >=45% and Ferritin above the upper limit of normal, HFE mutation analysis should be done.
-MRI used to confirm iron overload as well as quantify severity. Liver biopsy is not required for diagnosis, but can be used when precise estimation of iron burden is needed or when the cause of liver injury is unclear.

Treatment includes phlebotomy or iron chelation therapy.

Remember:
-Hemochromatosis significantly increases the risk of HCC so all patients need regular screening regardless of presence of cirrhosis.
-Patients are at increased risk for certain infections including Vibrio, Listeria and Yersinia due to their increased virulence in the setting of iron overload.

Thank you to Ravi K for doing a wonderful job with the presentation! 🙂

 

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