Hemochromatosis
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Introduction
The Case of...
Causes and Risk Factors
Celtic origin; in British population, prevalence is 1:150-200
Hemochromatosis is one of the most common autosomal recessive conditions, with two mutations (CY282 or H63D) recognized in the HFE gene.
Pathophysiology
Signs and Symptoms
Hemochromatosis can be asymptomatic or lead to mild fatigue.
It can also cause more serious effects such as hepatomegaly, cirrhosis, hepatocellular carcinoma, diabetes mellitus, pituitary dysfunction, arthropathy, cardiomyopathy and arrhythmias, polycythemia, porphyria cutanea tarda, and bronzing.
Screening test: serum iron saturation (serum iron/TIBC).
If over 45%, evaluate the HFE gene test and test ferritin.
- history
- physical exam
History
Physical Exam
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Diagnostic Imaging
Differential Diagnosis
Treatments
Hemochromatosis is treated with phlebotomy.
Consequences and Course
The Case of...
Additional Resources
Topic Development
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