Looking for advice for my husband

[lollypocket]

Hi,

My husband has been feeling extremely fatigued with a foggy brain for months. He finally went to the GP at the beginning of the year as he was also having some stomach issues.

He had several blood tests and fecal tests. He got normal results on everything except severely low vitamin D and high iron.

They gave him high strength vitamin D capsules and took more bloods to test his iron and gene testing for suspected HH. Referred him for a colonoscopy, and awaiting a date.

His gene testing came back showing that he has one gene C282y and one gene H63d. His GP referred him back to Haematology.

This morning his GP sent him this:

I have heard back from the Haematologist. They have advised that you are at risk of developing Haemochromatosis, and to check your bloods every 6 months. The level at which action is required, is a "transferrin saturation index" of greater than 60%. Normal range is 15 to 45%. Your latest level is 48%, so well short of concern.

Hubby still feels exhausted and is unsure what his next move should be. Any advice on whether this is standard or whether he should be pushing for any other help?

[Autumn_Leaves]

I’m afraid the answer to this is “it depends”.

Generally speaking, it is ferritin levels rather than TSAT that influences the decision to start venesection treatment. TSAT can be highly variable and can vary even with the time of day a blood sample is taken, and can go up and down without treatment.

Ferritin levels are an indication of the body’s iron stores which are predominantly in the liver. Ferritin is also an “acute phase reactant” which means it can increase in response to inflammation, for example infections, inflammatory disorders such as rheumatoid arthritis and systemic inflammation that accompanies metabolic syndrome. Ferritin also increases if there is liver damage or liver disease. That’s why it’s important to rule out any other causes of increased ferritin before pinning every symptom on haemochromatosis — which some people are apt to do. Not everything is a symptom of haemochromatosis, and having haemochromatosis does not exempt anyone from developing unrelated illnesses.

Contrary to what many people believe, haemochromatosis is a condition of iron overload. It is not someone’s gene test result, if that makes sense. Hence the reason why his doctor has stated he is “at risk of developing haemochromatosis” The important thing is that his blood is checked regularly and if/when he is reaching the threshold of iron overload, venesection treatment will begin. Until then, it is a situation of “watchful waiting”

In the meantime it is important that your husband has other conditions ruled out, “Fatigue” is listed as a symptom of just about every illness so it could be anything It is important that he has his gastroenterology tests to rule out other conditions. Beyond that, please consider lifestyle. I’m not saying that to be trite or patronising but no matter the outcome/diagnosis, you still need to look after yourself by managing sleep, finding a method of stress reduction, exercise/movement which is sustainable, manageable and enjoyable, and paying attention to diet quality. I’d also reduce alcohol consumption to the minimum because haemochromatosis can make the liver more susceptible to damage. I’d also advise extreme caution around dietary supplements. Never, never, never take iron supplements and preferably kick vitamin C supplements to the kerb. They can increase iron absorption. In fact, just be wary of taking supplements at all. Take a food first approach and don’t supplement unless you have a demonstrable deficiency ie a blood test that shows it. As for vitamin D, your husband should take his doctor’s advice. Once his levels are normal, please don’t megadose. All these unnecessary supplements just give the liver more work to do, and we don’t want that.

Regardless of diagnosis, or no diagnosis at all, it’s important to address lifestyle factors to promote good health. I hope it all goes well with the colonoscopies.

[lollypocket in reply to Autumn_Leaves]

Thank you for the reply. I have passed it on to my husband 😊

[Pliskin in reply to Autumn_Leaves]

Thank you for that. I was diagnosed 24 yrs ago and still kicking. It’s great to have a grounded well thought out appraisal such as yours. Keep well.

[Autumn_Leaves in reply to Pliskin]

Thanks. I witnessed my dad dying from liver disease long before we knew about the genetics of haemochromatosis. Thankfully we are not all “worst case scenarios” and early detection is preventing these outcomes. It is annoying that so many websites are scaring people into believing that just because they are a carrier of one gene variant they are going to be doomed to have life-threatening outcomes whereas in reality they will most likely spend their entire lives within normal ranges, although there are exceptions. It’s all down to the ferritin levels more than anything else.