Is it worth testing further for haemochromatosis in this unclear case?

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I have suffered from chronic fatigue, depression and mood swings for a few years and have osteoporosis, occasional heart palpitations and eczema. I've seen a lot of doctors but no-one has any idea what the cause is. I have high iron (32 umol/L) and high transferrin saturation (55%) but my ferritin isn't high (129 ug/L) and a genetic test shows that I am only heterozygous for the H63D mutation. I've seen a haematologist and his view is that I do not have haemochromatosis because my ferritin isn't remotely high enough and I have no life-threatening clinical symptoms. I asked him whether we could try a few weekly phlebotomies to see how my iron levels responded but he flatly ruled this out on the basis that it would make me anaemic straight away.

My understanding from reading about haemochromatosis is that transferrin saturation is a far more important indicator than ferritin, and it seems to me that, by having a few phlebotomies done and seeing how my iron levels respond, I would find out with some certainty whether I had this problem. If my iron levels plunged straight away then it would strongly suggest that I didn't, and if they stayed high then it would strongly suggest that I did.

Was the haematologist being reasonable in refusing the test?

If he wasn't, is there another doctor I could see in the London area who would be more accommodating?

Thanks for any opinions on this.

1 like, 21 replies

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  • Posted

    I have never had to take a urea tablet - it has always been a breath test. It has been different almost each time, but I have blown via a straw into a liquid till it turned blue x 2 and blown into a small balloon via a straw. I think I had to drink a lemon (acid) drink first. However, I have the same reaction with food that you have, worsened since xmas, and yes the distention that is caused is very painful.

    Maybe the urea tablet is the next new test.

    A low platelet count is not good - have you googled it? Mine is average.

  • Posted

    Yes, I've googled my low platelet count but I couldn't find anything that would explain it as it's not that low - just a bit below normal, but consistently so. The standard explanations like bone marrow problems result in much lower levels. So a slight drop due to H Pylori would have fitted it much better.

    However, my result came back today and it was negative. The information said it was 96% specific to H Pylori, so maybe I have something similar that has a similar effect but isn't H Pylori. Who knows. I may try some non-prescription remedies for H Pylori or stomach bacteria/yeast in general and see whether they have any effect. The problem for me became a lot worse after taking prescribed protein pump inhibitors about 2 years ago because of an ulcer. I read that these reduce stomach acidity and can cause bacteria to take root in the stomach that normally couldn't, and then it's very difficult to get rid of them again.

    Are you currently being treated for H Pylori then? How is it going?

  • Posted

    No, I am not being treated yet as i am waiting for my husband to be seen by a Head and Neck specialist to whom he was referred for the same problem. So he is not being treated yet either. I thought we should do it together because it is contageous.

    I thought seeing these two specialists were a bit of overkill but I guess the gp had other ideas as to the cause of his symptoms.

    Your pathology does sound rather strange. It kind of reads that it is 96% possible that it is HP!! Ulcer? Was it a stomach/duodenal ulcer? That is HP. The bacteria that takes root is HP. I have searched for another cause, and apart from those bacteria that cause vomiting and diarrhea, HP seems to be the only one.

    What explanation did your dr give then for your problems? I take it that he/she refuses to prescribe HP treatment. I would ask for another test - perhaps stool or endoscopy.

    A quick read of the following leads me to query. The specific % seem to be rather contradictory.

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC230122/pdf/353058.pdf

    What do you think?

  • Posted

    Yes, it does sound characteristic of a H Pylori ulcer. It was at the bottom of my stomach, the 'prepyloric area' which appears to be typical of H Pylori ulcers. But they took some biopsies and found no H Pylori then. So that's twice that a H Pylori test has been negative.

    At the time the doctor said that it was probably due to NSAID painkillers, even though I rarely took them. Since then, I've never taken any and it doesn't seem to have made any difference.

    Not sure about the article. The test I had recently was a carbon isotope-related breath test rather than an antibody test.

    So I'm still at a bit of a loss about what is going on. It could be H Pylori but then again the evidence doesn't seem very supportive. I'll continue to take the home remedy cures for H Pylori which are hopefully safe and see if it makes any difference.

    I hope your treatment is successful once it starts - good luck!

  • Posted

    How frustrating for you. At least HP is treatable if you were pos for it.

    In the article, the information about being 96% specific was the interest. The wording on my husband's HP pathology was strange too and I did not get a copy because he was seeing a Head & Neck surgeon who had been given the results. Seeing his gp tomorrow so will get a copy and outcome from the gp.

    I will let you know the wording and how the gp interprets it.

    If your dr does not reckon you have HP, what does he say you have. Have you put him on the spot?

    In the meantime I read somewhere about using mastic gum for HP.

  • Posted

    Hi David - Following is my husband's pathology result of the endoscopy:

    Clinical Notes: Gastroscopy for mild dysphagia. Samples - Gastric,

    lower oesophageal, mid oesophageal. Conclusion - A small hernia with

    free reflux noted. Histology taken for eosinophilic oesophagitis.

    Mildly erythematous stomach. Suggest a trial for PPI. Await histology.

    Macroscopic:

    1. Mid Oesophagus Biopsy: The specimen consists of one portion of pink

    tan tissue measuring 4mm in greatest diameter.

    Blocking Details: In toto block 1.

    2. Lower Oesophagus Biopsy: The specimen consists of two portions of

    pink tan tissue measuring 3mm and 5mm.

    Blocking Details: In toto block 2.

    3. Gastric Biopsy: The specimen consists of three portions of pink tan

    tissue measuring 3-5mm.

    Blocking Details: In toto block 3.

    Microscopic:

    1. Mid Oesophagus Biopsy: The specimen includes oesophageal squamous

    mucosa. Inflammation is not significantly increased, specifically

    eosinophils are not seen. There is no evidence of intestinal

    metaplasia, dysplasia or neoplasia.

    2. Lower Oesophagus Biopsy: The specimen includes oesophageal

    squamous type mucosa. Inflammation is not significantly increased and

    increased eosinophils are not seen. There is no evidence of intestinal

    metaplasia, dysplasia or neoplasia.

    3. Gastric Biopsy:Sections show gastric antral type mucosa. There

    are features present in keeping with reflux / reactive type gastropathy

    along with mild background chronic gastritis. There is intestinal

    metaplasia present. There is no evidence of dysplasia or malignancy.

    Helicobacter like organisms are present on routine stains.

    Summary:

    1. MID OESOPHAGUS BIOPSY: WITHIN NORMAL LIMITS.

    2. LOWER OESOPHAGUS BIOPSY: WITHIN NORMAL LIMITS.

    3. GASTRIC BIOPSY: CHRONIC GASTRITIS; INTESTINAL METAPLASIA;

    HELICOBACTER-LIKE ORGANISMS PRESENT.

    Note the "Helibacter-like organisms present". Nothing like your 96% specific report. On the basis of that report he was prescibed:

    Amoxycillin 500mg 1 cap 3 times a day for 2 weeks

    Clarithromycin 250mg 1 tab twice a day for 2 weeks (could have been Klacid too)

    Nexium (esomeprazole) 40 mg 1 per day for one month

    I have to wait longer to start my therapy, so we may end up contaminating each other later!

    Today someone gave me some Kefir culture which may be very helpful.

    I hope this gives you some idea of how to sort your problem out.

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