Resolved question:
I am an active 54 year old male. 6ft 1" weighing 80kg and in good general health.
Since 2008 I had been taking fenofibrate tablets to lower my triglycerides. They were around 2.1 g/l and after taking fenofibrates they dropped to around 0.9g/l.
I had a full blood test as a checkup taken in december 2013. My triglycerides were 1.95/l, GGT 98, AST 43 ALT 55 I had been drinking more than I usually drink, around 6 to 8 125cl glasses of wine a day, for the preceeding 6 months to the blood test. I would normally drink everyday but probably only 3 or 4 glasses of wine.
I cut back my drinking to drinking just a single glass of wine every few days and was retested 3 months later in March 2014. Triglycercides were 0.82 g/, GGT 60 AST 47 ALT 43 and a ferritin count of 948, transferrin saturation 36.4% and iron 1.32 mg/l . I was sent for an ultrasound scan and the results were all normal for my liver, pancreas, kidneys.
I was informed by my doctor to stop drinking completely and be retested in 3 months. I stopped drinking for the next 3 months completely and was retested on 24 June 2014. GGT 39, AST 25, ALT 27,Ferritin 1252
I was then sent to see a specialist who arranged for a gene test which came back positive for heterozygote cys282Tyr. I was sent for an MRI scan to check for iron overload and was found to have a moderate overload of iron in my liver of 180micromol/g with no cancerous damage to the liver and no deformity of the liver. No anomalies with the spleen, pancreas, kidneys were visible.
I was informed that I did not have hemochromatosis but should be treated immediately giving 350ml of blood every two weeks until the ferritin count was down to 50.
Treatment started end of August 2014 and proceeded every two weeks until April 2 2015 when my ferritin count reached 43. I have not had a phlebotomy since April 2. In April I stopped taking the fenofibrate as I had read that it can cause stress on the liver.
I have just had another full blood test on May 2015. Triglycerides 1.19g/l, AST 24, ALT 22 GGT 23, Ferritin 29. I am scheduled for a ferritin test every two months and if it rises above 50 then I will be scheduled for a phlebotomy.
A very long history I know :-)
I live in France and have been treated by the French medial system. Whilst I do speak French I do find it difficult to understand the medical terminology.
I am confused that the specialist said that I don't have hemochromatosis as the gene defect is only heterezygote but my treatment appears to be for hemochromatosis. Is it likely that I do or don't have hemochromatosis?
I am just after some piece of mind as to what caused my iron overload if it wasn't hemochromatosis I would like to know what could have possibly caused it. I am concerned that there will be some lasting damage to my liver. From my tests could you tell me if it is reasonable to think that my liver has suffered no permanent damage?
I haven't drank alcohol since March 2014. This has not been a problem for me but I would like to know if I am not running any additional risk for me to now resume low/moderate drinking again. As in a glass of wine with a meal every now and again. I do after all live in France :-)
Apologies for the length of this question, but I am just after some peace of mind.
Submitted:
4 Days
Category:
Gastroenterologist, Medical
Hello,
Thanks for posting your query at DoctorSpring.com
I am Dr.R.K and I am pleased to assist you.
Your ferritin was quite high and your gene is positive for hemochromatosis.
But the transferrin saturation is not suggestive of it.
I would like to know the following.
1. Were other causes of iron overload checked?
2. Was liver biopsy done?
Please get back to me with these information.
Regards,
Dr.R.K.
Hi, There were checks for Hepatitis B and C both of which were negative and a test for Bilirubine which was 3.7 mg/l my thyroid was also tested TSH ultra sensible whih was 2.03 mUI/I A liver biopsy wasn't performed I assumed that the MRI scan to check for iron overload and health of liver, spleen, pancreas and kidneys was used instead of a liver biopsy. regards,
Hi,
Yes MRI is an alternative method to assess the liver iron content.
You are only a heterozygote for the Hemochromatosis gene.
You are not a homozygote or a compound heterozygote for Hemochromatosis gene.
Moreover the hepatic iron content of 180 is very less.
All these suggest you probably do not have hemochromatosis.
You need to get tested for secondary iron overload states.
Regards,
Dr.R.K.
Ok thanks for that. Back to my original question though, from my tests could you tell me if it is reasonable to think that my liver has suffered no permanent damage? Is it probable that I had Alcoholic Liver Diseases? I had discounted this as my ferritin count was still increasing even though I had stopped drinking alcohol?
Hi,
Your liver is not damaged permanently. The diagnosis and treatment of secondary cause will help liver recover from temporary injury.
Regards
Thanks for that, it's a relief just to hear someone say it. Last question, is it OK if I start drinking alcohol again? As in a glass of wine with a meal every now and again?
Hello,
Your alcoholic liver disease is ruled out by USG but, you are heterozygous for hemochromatosis. That means risk of cirrhosis is more if you don't take care from now. But, occasional moderate drinking is fine.
Regards