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Gastroenterology  (Expert Forum)
 | 
Hemachromatosis
Answered by
Kevin Pho, MD - Internal Medicine
KevinMD.com
This forum is for questions regarding Gastroenterology issues such as Acid Reflux (GERD), Barretts Esophagus, Colitis, Colon/Bowel Disorders, Crohn's Disease, Diverticulitis/Diverticulosis, Digestive Disorders, IBS, Stomach Pain.

Hemachromatosis

by ChrisBry, Jan 21, 2007 12:00AM
Hi there & I am 33 years old.I was a pretty heavy social drinker up until age 22 when I fell ill went to the doc & my LFTs were elevated, imediatly stopped drinking in 1995 at age 22 .was found to have hemochromatosis in 1997.Got phlebotomys once a week till I was --de ironed- & have been getting intermittent phlebotomys ever since. Did well untill beginning of 2006 when I noticed the fatigue caming back & some pain on my right side through to my back.Started to lose weight went from 204 down to 173 ,now Im back up top 182.In 2006 My Gi docto who diagnosed me with HH , sent me to a Hepatologist here at Vanderbilt, & I also flew to Mayo Clinic in Jacksonville to about this.
My symptoms are pain in my back particularly when laying or sitting in a car for a while.Fatigue, diahhrea when eating fatty foods followed by loose yellow stools
Now my pain in my right upper quadrant has gotten better.
My -biggest- problem now is that I have a terrible pain directly in my left side, like I as if someone directly to my left punched me in the ribs.Whats causing this?.Feel bloated & Have spasms there.      
The only thing I changed is that about 4 years ago I started drinking 2 large glasses of carrot juice every day which I now have stopped.Also I used to go to the tanning bed 3 times a week untill just before i got what looked to be a bruise from the tanning bed around both my ribcages & on my back like a large band around my thorax. I really dont know if this is a part of why Im hurting in my ribs now.
Here is a time line of all my tests
1997 liver bpsy :Iron tis qt 6833 normal is 400-2200
                  Iron index   5.3  normal<1.0
      Mild fatty change,Mild fibrosis,Cirrhosis not identified
2006 Ultrasnd-showed mild Fatty liver small gp polyp                                                    MRA ,CT ,MRCP ,ERCP normal
24 hr urine porphyins
heptacarboxlp(6h)0-4                                       CoproporphI(45h)0-24 CorproporphIII(112)0-74                 uric acid(1019)250-750                                                           Liver test normal all year-Kidney Funct normal all year-
Triglycyrides were pretty high last spring now are normal.
3/01/2006 Amylase (137)normal 0-99  
Thats the only time my amylase was abnormal the whole year. --However my Lipase was mildly elevated throughout the year  running about (320) normal was 114-286.The last one I had this month was normal.
One doc said this is pancreatitis & another one said my kidneys wasnt clearing the Lipase ,How would one diffrent between this?If its my kidneys, is it cause by my liver?
In Aug. B12 was low (92) norm 180-914 MMA(.43)norm 0-.4
started taking B12 & it is normal now
I was eating very little  meat  
Also in aug my ANA was elevated (2.1) norm 0-1
ANA has been checked twice since & has been normal what is the significance of this
Nov.MELD=7 Heptogst said he didnt need to see me again.
   Meds-Viokase, toprol,B12
Any ideas or suggestions? TY

by Kevin Pho, MD, Jan 22, 2007 12:00AM
You have had a pretty comprehensive evaluation - including referrals to major tertiary medical centers.

With the non-revealing testing thus far, many of the GI diseases would have been ruled out.

Regarding the abdominal discomfort and stool symptoms, you can consider malabsorption syndromes as well as celiac disease.  The stool can be sent off for analysis and blood tests can be done to rule out celiac disease.

Otherwise, looking outside of the GI system can be considered.  A bone scan, x-ray of the ribs or a referral to a physiatrist can be considered to explore musculoskeletal causes.  

These options can be discussed with your personal physician.

Followup with your personal physician is essential.

This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.

Kevin, M.D.
kevinmd_
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