Not sure what to do.

Did your other bloods include testosterone levels?  Also there is such a problem as metabolic syndrome (which is caused by a whole host of other problems) and which can result in high ferritin levels but low TS%.  Ask your dr to investigate this issue.

 

Hi, If I were you I would go back to your doctor and suggest venesections to reduce your ferritin level and once the level is back to 50, you can go on to maintenance which is occasional blood letting.    Haemochromatosis has no cure other than blood letting (venesections) with a careful watch on any symptoms you may be having.   There are quite a number of symptoms attached to Haemochromatosis, impotence, insomnia, arthritis, and more.   If your ferritin level continues to rise, this can cause problems such as iron overload settling in one of your organs and which can cause  tumour(s).     Early diagnosis of haemochromatosis is essential and should not be ignored.   So, back to the Doctor, suggest fortnightly venesections, till your level is reduced to around 50 and make sure you tell him all your symptoms, regards Elizabeth    

Hi Jo,

About ED – I’d suggest going back to your doctor and saying something along the lines of, “Okay, how do we find out what’s *causing* my erectile dysfunction?” 

Besides the obvious - that ED is no fun at all - ED is a symptom of something.  It could be a result of stress or a side effect of a medication – but it could also be an early warning of an underlying disease that you want to find and fix before other problems develop.  For example, ED can be the one of the first symptoms of arterial narrowing, or of lung disease causing low oxygen, or of diabetes causing reduced nerve sensation, or of low testosterone (which can be caused by all kinds of things, including smoking and iron overload, both of which affect the testes and pituitary gland as well as other glands . . . .) 

To get you started thinking about what possible causes might or might not be involved for you, there’s some good information posted on patient.info – if you do a search on      patient.info health erectile-dysfunction       it should show up.

There’s also more detailed information posted for doctors that your doctor might find interesting? -     patient.info    doctor   erectile-dysfunction    

Some hints that arterial narrowing might be involved:  feet tend to get cold, toenails grow more slowly than they used to, reduced hair growth on the lower legs (with hair growth higher up the leg less affected).

Some hints that low testosterone might be involved:  slower male beard growth, slower body hair growth (the latter noticed mainly by those who shave body hair regularly – e.g., women, competitive swimmers), being on medications that cause low testosterone – e.g., long-term high-dose opioids.

A hint that low lung function might be involved: getting short of breath with physical activity.

Some hints that nerve function might be involved: high blood sugar, numbness in the saddle area after bicycle riding (usually happens after long-distance cycling.)

About uric acid: 

Do you know what the normal range is for your lab?  I found a normal range for men aged 19-60 years of 0.24 – 0.47 mmol/L, so it sounds as though your uric acid level isn’t *that* high?  To help bring uric acid down, go easy on alcohol (especially beer) and go easy on high-purine meats like organ meats, avoid soft drinks and other sugary foods/drinks, especially those made with high-fructose (high-fructose corn syrup, glucose-fructose syrup), and eat lots of veggies – veggies are good!  Also, cherries help reduce uric acid levels.

About a high ferritin of 1114 ug/L and normal transferrin saturation of 28% and being positive for H63D:

The question I’d suggest asking your doctor here would be, “Is my ferritin up because I have too much iron in my body, or is my ferritin up for some other reason – or both?” 

From your note, I gather you are not homozygous ( +/+ ) for C282Y or you would have mentioned it, which leaves the possibilities of your being either a carrier with one C282Y mutation ( +/- ) or your not having any C282Y mutations ( -/- ). 

With regard to H63D, did your doctor say if you have one H63D mutation (H63D heterozygous = +/- ) or two (H63D homozygous = +/+ )?  I mention this because based on my reading, people with one H63D mutation and no C282Y mutations ( H63D +/-, C282Y -/- ) don’t seem to have an increased risk of iron overloading.  However, people with two H63D mutations ( H63D +/+ )  *do* have an increased risk of (mild) iron overloading, and so do people with one H63D mutation plus one C282Y mutation ( H63D +/- , C282Y +/- ), who are called “compound heterozygotes”.

Again based on my reading, mutations of the HFE gene that cause iron overload (Hemochromatosis Type 1) generally put up both ferritin and transferrin saturation, and so do mutations causing Hemochromatosis Type 4b.  However, Hemochromatosis Type 4a causes a kind of iron overload that makes ferritin go up but not transferrin saturation.  My rheumatologist said not to worry too much about the exact genetic diagnosis of iron overload, though, because no matter what gene(s) are the culprit, you still need to get rid of the extra iron, usually through phlebotomy. 

BUT – and it’s a big but - if your ferritin is up for one or more of the very common reasons *other* than iron overload, phlebotomy isn’t going to help those other reasons and you need to figure out what they are so you can fix them.

Besides iron overload, ferritin can also go up because of drinking too much alcohol, obesity – especially the “apple” shape where the extra weight is carried around the middle – metabolic syndrome, diabetes, liver disease, infection, inflammatory conditions including rheumatoid arthritis, autoimmune thyroid disease, kidney disease, and sometimes even cancer.

Your doctor will suspect one of these other reasons could be the culprit if your sedimentation rate (“sed rate”) or c-reactive protein (CRP) is elevated, because when these go up, so does ferritin – but not transferrin saturation.  On the other hand, if your sed rate and/or CRP are perfectly normal, then it’s more likely that iron overload is the cause of your ferritin being high. 

In my case, my ferritin went up to a maximum of 1438 ug/L with a normal saturation of 29%, while my sed rate and CRP were both normal.  My chronic disease specialist told me this meant that inflammatory conditions were highly unlikely to be the reason my ferritin was high, and she ordered a trial of phlebotomy.  Sure enough, with weekly phlebotomy, my ferritin started coming down and my hemoglobin hung in there, confirming that I did indeed have extra iron on board.   After 25 phlebotomies to remove a total of 7.45 litres of blood, my ferritin came down below the 50 ug/L target set by my rheumatologist and I am keeping it there with the occasional phlebotomy as needed.  I do know that I am C28Y6 -/- and H63D +/+ .

About a normal liver ultrasound:

It is very good to have a normal liver ultrasound!  However, IF it turns out that you do have iron overload, you might want to ask about liver elastography to look for liver fibrosis.   A regular liver ultrasound won’t pick up liver fibrosis until it is bad.  When I had liver elastography, the probe used looked like the one they use for regular ultrasounds, but instead of being slid back and forth, it was held in one spot over my liver and it thumped me – at first lightly, and then with increasing strength.   

Neither ultrasound nor elastography will tell you if you have excess iron in your liver.  If it turns out that you do have iron overload, then you might want to ask your doctor about getting an T2* MRI scan for to check for the presence and degree of iron overload.  This type of MRI scan also helps diagnose the genetic cause of iron overload, because Type 1 hemochromatosis (HFE-related) and Type 4b (ferroportin gain-of-function) hemochromatosis cause iron loading especially in the liver, whereas Type 4a (ferroportin loss-of function) causes iron loading in the spine and spleen as well as in the liver.  I mention this because Types 1 and 4b hemochromatosis put up both the ferritin and the transferrin saturation, whereas Type 4a hemochromatosis puts up the ferritin but not the transferrin saturation.

I hope some of this is helpful for you in preparing to talk with your doctor -