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Iron Overload and Hemochromatosis |
E-Newsletter No. 51
Disease of significant iron overload, accumulation of excessive iron in body tissues. Genetic and Non-Genetic CausesIn the U.S., it is estimated that 1 of 10 people carry the gene mutation that can lead to iron overloading and possible disease. 1 in 6 can have elevated Transferrin Saturation (TS).
Early Sx Fatigue Weakness Weight loss Abdominal pain Arthralgia |
Progressive
Disease Sx Arthritis Signs of gonadal failure Anenorrhea, early menopause Loss of libido, impotence Shortness of breath, Dyspnea |
Advanced
Disease Sx Arthritis LFTs (liver function tests) Chronic abdominal pain Severe fatigue, Hypopituitarism Hypogonadism Cardiomyopathy, arrythmia Liver cirrhosis, Liver cancer Heart failure Grey or Bronze Skin pigmentation |
Goal: Reduce Ferritin (Fasting) level to
~20mg/ml (25-50mg/ml) lifetime. Liver biopsy only of SF>1000mg/ml
Monitor before every additional 1 or 2 treatments before SF<100mg/ml
Clinical course can be affected by excess iron in the diet, alcohol use, Vitamin C intake, infections, iron lost thru blood donations, and menstruation, and other environmental factors (e.q., alcohol use may worsen the disease, whereas iron loss thru phlebotomy or menstruation may lessen the severity).
Diagnosis: Elevated tranferrin Saturation and Serum
Ferritin
Treatment: Phlebotomy; 250mg/1unit of whole blood, once or twice weekly until excess Fe is
removed as indicated by monitoring Hemoglobin(Hgb) and Serum Ferritin Concentration
Monitor SF every 4-8 weeks:
200mgFe=500ml bloodx15phlebotomies=3g Fe
Biochemical Tests include:
Recommended laboratory tests for the workup of a patient you suggest may have hemochromatosis are:
Note: Due to patient compliance issues, a TS value obtained from a non-fasting blood draw can be used to screen a patient for iron overload. Non-fasting TS values greater than 60% indicate iron overload. Non-fasting values between 45% and 60% are considered evidence of borderline elevation. A repeat TS from a fasting blood draw should be drawn.
Interpreting the results of a fasting transferrin saturation (TS) test:
Transferrin Saturation % | Interpretation | Action |
<16% | Low | Consider iron deficiency |
16-45% | Normal | Reassure patient that he or she does not have iron overload, return to usual care* |
>45% | Elevated | Proceed with serum Ferritin tests and additional work up as warranted |
Note: Patients with nonalcoholic
steatohepatitis can exhibit normal TS but may exhibit elevated SF.
Monitoring:
SF should be checked every two years in normal patients. Serum Ferritin test
results>200 for premenopausal and >300 for postmenopausal females, and >300 for
males in the absence of other causes cancer, inflammatory or injections processes warrants
iron removal via phlebotomy and confirmation of hemochromatosis.