Algorithm regarding the diagnosis and treatment of Hereditary Hemochromatosis HH. Step 1: In the patient with suspected HH based on symptoms, elevated liver enzymes, or family history, the suggested initial screening test should be TS and SF level. Step 2: If TS is <45% and SF is normal, further evaluation is not necessary. If TS is ≥45% and SF is elevated, HFE gene testing should be performed. Step 3: All patients who are C282Y homozygotes should proceed to phlebotomy. If SF is >1,000 μg/L, liver biopsy is suggested for fibrosis staging. Patients with cirrhosis should undergo screening for hepatocellular carcinoma. A liver biopsy can also be considered before initiating phlebotomy in C282Y homozygotes with elevated liver enzymes to rule out additional causes of liver disease. In the patient who is not a C282Y homozygote, evaluation for other causes of elevated iron indices should be performed, including liver and hematologic disorders. If other causes of iron overload have been ruled out, HIC should be assessed by liver biopsy or MRI. Patients with elevated HIC and SF of >1,000 μg/mL should proceed to therapeutic phlebotomy. ALT, alanine aminotransferase; AST, aspartate transaminase; HH, hereditary hemochromatosis; HIC, hepatic iron concentration; SF, serum ferritin; TS, transferrin-iron saturation. #hemochromatosis #algorithm #diagnosis #management #hepatology #gastroenterology
