Last updated 2mo ago
A 50-year-old man presents with fatigue, joint pain, and elevated liver enzymes. He has bronze-colored skin and diabetes. Transferrin saturation is 75% and ferritin is 2000 ng/mL.
AR; HFE (most common)
- C282Y (p.Cys282Tyr) homozygosity - classic type 1
- H63D: milder or compound with C282Y
- Tight linkage disequilibrium with HLA-A3 on the ancestral haplotype (historical typing marker before HFE sequencing was available)
- Iron overload (excessive intestinal absorption)
- Hepatic: Cirrhosis, hepatocellular carcinoma
- Cardiac: Cardiomyopathy
- Endocrine: Diabetes ("bronze diabetes"), hypogonadism
- Skin: Bronze hyperpigmentation
- Joints: Arthropathy
- Elevated transferrin saturation (>45%)
- Elevated ferritin
- HFE genetic testing
- Liver biopsy or MRI for iron quantification
- Therapeutic phlebotomy
"Him-ochromatosis": Hemochromatosis more commonly affects males (40-60 yo), so think "Him-ochromatosis." Remember the mnemonic "Hemochromm": Heart (cardiomyopathy), He issues (erectile dysfunction, hypogonadism), bronze diabetes (hyperpig + DM), CPPD (pseudogout), hepatomegaly/liver cancer, remove blood (phlebotomy). The C282Y variant is a classic founder effect example in Northern Europeans.
This visual walks through the "Hemochromatosis" mnemonic: heart issues, erectile dysfunction, bronze DM, CPPD, hepatomegaly, phlebotomy treatment, and increased susceptibility to "Livy" infections (Listeria, Vibrio vulnificus, Yersinia enterocolitica).
