Hemochromatosis: Difference between revisions
| Line 17: | Line 17: | ||
**>300 ng/mL in males and postmenopausal women | **>300 ng/mL in males and postmenopausal women | ||
**>150 - 200 ng/mL in premenopausal women | **>150 - 200 ng/mL in premenopausal women | ||
*Transferrin saturation: >45-50% is suggestive of iron overload | |||
*Outpatient HFE genetic test to confirm diagnosis | |||
==Management== | ==Management== | ||
*Phlebotomy | *Phlebotomy | ||
Revision as of 07:13, 18 August 2022
Background
- Accumulation of iron in the body
- Most commonly due to hereditary hemochromatosis (HHC) or iron overload from transfusion
- Hereditary hemochromatosis most common in people of Celtic ancestry
- AKA "bronze diabetes"
Clinical Features
- Cirrhosis
- Diabetes due to iron deposition in pancreatic beta cells
- Cardiomyopathy
- Arthritis: knuckles of the second and third fingers most common
- Bronzing of the skin
Differential Diagnosis
Hyperglycemia
- Physiologic stress response (rarely causes glucose >200 mg/dL)
- Diabetes mellitus (main)
- Hemochromatosis
- Iron toxicity
- Sepsis
Evaluation
- Serum ferritin:
- >300 ng/mL in males and postmenopausal women
- >150 - 200 ng/mL in premenopausal women
- Transferrin saturation: >45-50% is suggestive of iron overload
- Outpatient HFE genetic test to confirm diagnosis
Management
- Phlebotomy
- Chelation with deferoxamine