Hemochromatosis and SVT

I am female, 50 and have just been diagnosed as homozygous for the C282 mutation in the HFE gene. Ferritin level is 471. Tests showed no signs of liver or other organ problems - liver enzymes are well within normal limits.I started developing all kinds of health problems around age 45 (5 years after I started using the Mirena IUD and menstruation ceased,which I did not mind).  My joints became arthritic and painful, I became easily fatigued and lately could not even jog  2km, which was really frustrating.  I could not do 10 push-ups in a row due to weakness and became very injury-prone. I also developed frequent episodes of pSVT, often at night.  A doctor picked up the high ferritin level when I went for a comprehensive health assessment recently to try and find out what was going on with me.  The bothersome symptoms make sense now.  My question: will phlebotomy reverse the weakness, resolve the SVT and halt the arthritis? I do have (hereditary) high BP and take 12.5 mg metoprolol twice a day, which helps with the heart rhythm problem and keeps my BP around 110/75. An EKG and stress test at the health assessment were normal, but I was completely exhausted after 9 mins on the treadmill, even though I exercise 5 times/week and am not overweight.  I just cannot get fit! Many family members on my father' side, including my dad, had sudden MI's and died in their 40's and 50's.  Nobody has ever been diagnosed with hemochromatosis. I also have factor V Leiden (heterozygous) and I suppose that, combined with an abnormal heart rhythm and hypertension can be lethal if untreated. I just want to get fit and pain-free again - is that possible? I am getting my children tested as well.

[Gopi Aniyayhodiyil, MD]

Dear Jesse1188,

Thanks for the query.

I have gone through the details that you have provided. Your arthritis and easy fatigue are likely to be related to hemochromatosis. However, the paroxysmal supraventricular tachycardia that you mention may not be related to hemochromatosis. Ventricular ectopics may be seen secondary to cardiomyopathy. But I have not seen any reports of supraventricular tachycardia (SVT) due to iron overload. Atrial fibrillation is a very nonspecific arrhythmia and this type of SVT may be explainable but not PSVT.

As you do have a strong family history of ischemic heart disease, you will need to get thoroughly investigated. We should not assume that all your symptoms are due to iron overload since you specifically feel that your exercise capacity has come down. Presence of ‘factor V leiden deficiency’ may not directly change the course of your illness, though it  might make you more prone for thrombotic episodes like deep vein thrombosis and pulmonary embolism. But since you are heterozygous, there is a very good chance that you will remain asymptomatic. So I do not think that it should be a cause for concern.

To summarize my opinion about your queries:
1.      I do not think your PSVT is related to iron over load. But PSVT is not a life threatening condition and you need not be worried about it.
2.      You do need to manage your hypertension and keep a check on the onset of ischemic or coronary heart disease. It is a good idea to get your children checked as well so that you can take early measures to bring down the risk.
3.      You can consider phlebotomy under the guidance of a hematologist to relieve other symptoms of hemochromatosis. Early treatment is likely to improve the symptoms significantly and may even partly reverse the condition.
4.      You will need to consult a hematologist as well as a cardiologist. A combined approach may be needed to for effective management of your health problems.

Hope that this information helps and hope that you will get better soon.

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Best Regards,
Dr. Gopi A.