COMMENTARY
A Nice Reminder From a Former Patient to Consider Hemochromatosis as a Cause of Arthritis H. Ralph Schumacher, Jr, MD
T
here certainly have been reminders over the years about arthritis as an early feature that can lead to potentially treatable aspects of hemochromatosis as well as the fact that hereditary hemochromatosis may be more common than often suspected.1–3 Homozygosity for the etiologic gene mutation occurs in about 0.5% of individuals of northern European descent. This is a story from a former patient of mine about how devastating this disease can be. I received this following unexpected, dramatic letter 50 years after my initial studies with colleagues at Los Angeles VA and UCLA led to my first published research article.4 This man with hemochromatosis illustrates many of the ravages of this disease but also his amazing will to keep going. As you will note, he already had received joint surgery before he was diagnosed. He very soon got on appropriate treatment, but despite this, he had many of the potential complications of the disease. Although he has many problems, it seems unlikely that he would have survived to age 80 years without treatment. He had 1 son who we checked and found that he did not have the mutation. The patient’s brother had hemochromatosis and apparently died of cancer. His offspring included 1 daughter with the mutation, who is doing fine with frequent preventive phlebotomies. The Figure shows a typical milder joint involvement in hemochromatosis here affecting the first 3 metacarpal-phalangeal joints. April 12, 2013 Dear Doctor Schumacher, Maybe you better get a cup of coffee and some doughnuts, this may take a while. I’ll try to be brief. My name is Robert (Bob) P. Wert. We first met at your office January 31, 1983. I was referred to you by my doctor in Reading, PA. He had done some hand surgery on me and could not determine what was the cause of my joint problems. You put me in your Clinical Research Center for 8 days. There it was determined after a liver biopsy and many other tests that I had hereditary hemochromatosis. In fact, at the time, my iron level was about 999 mg/dL. You said that my disease and that of the 23-year-old girl you were treating were the worst 2 cases that you had seen up until that time. If it would help to refresh your memory, I owned and operated a motel in Morgantown PA. Well my friend, that day, you saved my life for sure. It’s been a long, sometimes tough road, but I’m still here at age 80 years. To bring you up to date would take hours, so I’ll try to be brief. I have had 27 joints replaced, rebuilt, fused, repaired, or removed. As in 3 hips replaced, 5 knees replaced, both shoulders replaced, 3 spinal fusions, and on and on the list goes. Most recent was right shoulder replaced December 28, 2012. To date, I have had 216 phlebotomies, most recent March 22, 2013. Next one will be next week. Trying to keep my hematocrit at 37 or less and a very low iron saturation of 15% or less. I have a phlebotomy about every 3 to 4 weeks. When I sold the motel in June 1997, my wife and I purchased 37 acres high up on the Cumberland Plateau way out in the middle of “NoWhere.” We live in a log house in the woods with the closest neighbor about half mile away. When we moved here, I had to find a good orthopedic surgeon; he in turn located a good family doctor. However, the family doctor, as you might well know, said, “Say what?” when I told him I had hemochromatosis. He had barely heard of it, but he read everything that you have written and really educated himself quickly. He is a cancer specialist, and sometime later, after I had been seeing him, he said, “You know Bob, since I met you I have started to screen all of my patients, and I have found 16 people thus far with iron overload.” In 2004, I was diagnosed with diabetes. I have an unbelievable little machine, you punch in the name of 100s of restaurants, and up pops their entire menu with calories, fats, sugars, etc, etc, etc, per portion, plus just about every food item on earth with all the information listed. You punch in your height, weight, and your food intake goals to regulate your diet. It was a terrific
University of Pennsylvania, VA Medical Center, Philadelphia, PA 19104 [email protected] Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. ISSN: 1076-1608/15/2101–0001 DOI: 10.1097/RHU.0000000000000211
JCR: Journal of Clinical Rheumatology • Volume 21, Number 1, January 2015
Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.
www.jclinrheum.com
1
Commentary
JCR: Journal of Clinical Rheumatology • Volume 21, Number 1, January 2015
FIGURE. A typical milder joint involvement in hemochromatosis affecting the first 3 metacarpal-phalangeal joints.
little tool, and I set my goal at 1200 calories/d. When I ate, I entered the item; when I hit 1200 calories, I quit for the day. In 1 month, I lost 18 lb, and had all my numbers under control, and I used that little machine until I was just automatically able to manage my sugar, thus no more problems. I just turned 80 years old December 19, 2012. Lots of aches and pains. No pain medications work anymore. However, last fall, high winds put down a dozen trees around the house from 6″ to 10″ in diameter, and I cut them all up and hauled them away, so I’m still ticking. I find it difficult to fathom the look on the faces of 90% of the medical people that I have told over the years since I met you that I have hemochromatosis; most don’t seem to have a clue, or they say, “Oh yes, I seem to recall a lecture once in med school, OK, probably 45 mins. Or so, what did you say it was again?” In February, the doctor ordered a colonoscopy. I was all cleaned out and appeared at 5:30 AM ready for the scope. Doctor was all set but says, “I’m picking up a flutter in your heart, we will wait a few minutes.” Another long story short. They took me from surgery center to ICU here in Crossville, where they determined I needed a pacemaker, like, right now. Into surgery at Crossville Medical Center, doctor attempted to install pacemaker, can’t
2
www.jclinrheum.com
find artery, stitched incision, and tried other shoulder, can’t find artery, stitched incision. (Doctors debate) Can’t get lead into heart because of obstructions from shoulder surgeries, damage caused in explosion during the Korean thing, scarring from 2003 openheart surgery to replace aortic valve and a bypass. ANYWAY! Crossville team finally got word from Vanderbilt that they have a special “team” that could do the job. They load me in ambulance all hooked up to a “heart-charging electrical system,” and we left for Vanderbilt (120 miles). By evening, we were all set, and in 1 hour 20 minutes, doctor installed my new pacemaker. He and I talked and joked and laughed through the whole process. Only new med required is blood thinner, which they are regulating as I write. I go to lab every 4 days for INR test. When my hearing started to go, the ear doctor said part of the problem was from when I was blown up in the service; however, most of the loss was caused by the same thing that ruined all my other joints. It seems the 3 little inner ear bones (hammer, anvil, and stirrup) are held together, as are all other joints, and the iron destroyed those joints as well. I do not have any signs of osteoporosis; on the contrary, all the surgeons thus far have commented on how hard and tough my bones are, and yet the joints just wear out, so I am not being treated for osteoporosis. Best Wishes, Bob H. Ralph Schumacher, MD University of Pennsylvania VA Medical Center Philadelphia, PA 19104 [email protected]
REFERENCES 1. Harty LC, Lai D, Connor S, et al. Prevalence and progress of joint symptoms in hereditary hemochromatosis and symptomatic response to venesection. J Clin Rheumatol. 2001;17:220–222. 2. Elmberg M, Hultcrantz R, Simard JF, et al. Increased risk of arthropathies and joint replacement surgery in patients with genetic hemochromatosis: a study of 3531 patients and their 11,794 first-degree relatives. Arthritis Care Res (Hoboken). 2013;65:678–85. 3. Schumacher HR, Straka PC, Krikker MA, et al. The arthropathy of hemochromatosis; recent studies. Ann N Y Acad Sci. 1988:224–233. 4. Schumacher HR. Hemochromatosis and arthritis. Arthritis Rheum. 1964;7:41–50.
© 2015 Wolters Kluwer Health, Inc. All rights reserved.
Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.
A Nice Reminder From a Former Patient to Consider Hemochromatosis as a Cause of Arthritis H. Ralph Schumacher, Jr, MD
T
here certainly have been reminders over the years about arthritis as an early feature that can lead to potentially treatable aspects of hemochromatosis as well as the fact that hereditary hemochromatosis may be more common than often suspected.1–3 Homozygosity for the etiologic gene mutation occurs in about 0.5% of individuals of northern European descent. This is a story from a former patient of mine about how devastating this disease can be. I received this following unexpected, dramatic letter 50 years after my initial studies with colleagues at Los Angeles VA and UCLA led to my first published research article.4 This man with hemochromatosis illustrates many of the ravages of this disease but also his amazing will to keep going. As you will note, he already had received joint surgery before he was diagnosed. He very soon got on appropriate treatment, but despite this, he had many of the potential complications of the disease. Although he has many problems, it seems unlikely that he would have survived to age 80 years without treatment. He had 1 son who we checked and found that he did not have the mutation. The patient’s brother had hemochromatosis and apparently died of cancer. His offspring included 1 daughter with the mutation, who is doing fine with frequent preventive phlebotomies. The Figure shows a typical milder joint involvement in hemochromatosis here affecting the first 3 metacarpal-phalangeal joints. April 12, 2013 Dear Doctor Schumacher, Maybe you better get a cup of coffee and some doughnuts, this may take a while. I’ll try to be brief. My name is Robert (Bob) P. Wert. We first met at your office January 31, 1983. I was referred to you by my doctor in Reading, PA. He had done some hand surgery on me and could not determine what was the cause of my joint problems. You put me in your Clinical Research Center for 8 days. There it was determined after a liver biopsy and many other tests that I had hereditary hemochromatosis. In fact, at the time, my iron level was about 999 mg/dL. You said that my disease and that of the 23-year-old girl you were treating were the worst 2 cases that you had seen up until that time. If it would help to refresh your memory, I owned and operated a motel in Morgantown PA. Well my friend, that day, you saved my life for sure. It’s been a long, sometimes tough road, but I’m still here at age 80 years. To bring you up to date would take hours, so I’ll try to be brief. I have had 27 joints replaced, rebuilt, fused, repaired, or removed. As in 3 hips replaced, 5 knees replaced, both shoulders replaced, 3 spinal fusions, and on and on the list goes. Most recent was right shoulder replaced December 28, 2012. To date, I have had 216 phlebotomies, most recent March 22, 2013. Next one will be next week. Trying to keep my hematocrit at 37 or less and a very low iron saturation of 15% or less. I have a phlebotomy about every 3 to 4 weeks. When I sold the motel in June 1997, my wife and I purchased 37 acres high up on the Cumberland Plateau way out in the middle of “NoWhere.” We live in a log house in the woods with the closest neighbor about half mile away. When we moved here, I had to find a good orthopedic surgeon; he in turn located a good family doctor. However, the family doctor, as you might well know, said, “Say what?” when I told him I had hemochromatosis. He had barely heard of it, but he read everything that you have written and really educated himself quickly. He is a cancer specialist, and sometime later, after I had been seeing him, he said, “You know Bob, since I met you I have started to screen all of my patients, and I have found 16 people thus far with iron overload.” In 2004, I was diagnosed with diabetes. I have an unbelievable little machine, you punch in the name of 100s of restaurants, and up pops their entire menu with calories, fats, sugars, etc, etc, etc, per portion, plus just about every food item on earth with all the information listed. You punch in your height, weight, and your food intake goals to regulate your diet. It was a terrific
University of Pennsylvania, VA Medical Center, Philadelphia, PA 19104 [email protected] Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. ISSN: 1076-1608/15/2101–0001 DOI: 10.1097/RHU.0000000000000211
JCR: Journal of Clinical Rheumatology • Volume 21, Number 1, January 2015
Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.
www.jclinrheum.com
1
Commentary
JCR: Journal of Clinical Rheumatology • Volume 21, Number 1, January 2015
FIGURE. A typical milder joint involvement in hemochromatosis affecting the first 3 metacarpal-phalangeal joints.
little tool, and I set my goal at 1200 calories/d. When I ate, I entered the item; when I hit 1200 calories, I quit for the day. In 1 month, I lost 18 lb, and had all my numbers under control, and I used that little machine until I was just automatically able to manage my sugar, thus no more problems. I just turned 80 years old December 19, 2012. Lots of aches and pains. No pain medications work anymore. However, last fall, high winds put down a dozen trees around the house from 6″ to 10″ in diameter, and I cut them all up and hauled them away, so I’m still ticking. I find it difficult to fathom the look on the faces of 90% of the medical people that I have told over the years since I met you that I have hemochromatosis; most don’t seem to have a clue, or they say, “Oh yes, I seem to recall a lecture once in med school, OK, probably 45 mins. Or so, what did you say it was again?” In February, the doctor ordered a colonoscopy. I was all cleaned out and appeared at 5:30 AM ready for the scope. Doctor was all set but says, “I’m picking up a flutter in your heart, we will wait a few minutes.” Another long story short. They took me from surgery center to ICU here in Crossville, where they determined I needed a pacemaker, like, right now. Into surgery at Crossville Medical Center, doctor attempted to install pacemaker, can’t
2
www.jclinrheum.com
find artery, stitched incision, and tried other shoulder, can’t find artery, stitched incision. (Doctors debate) Can’t get lead into heart because of obstructions from shoulder surgeries, damage caused in explosion during the Korean thing, scarring from 2003 openheart surgery to replace aortic valve and a bypass. ANYWAY! Crossville team finally got word from Vanderbilt that they have a special “team” that could do the job. They load me in ambulance all hooked up to a “heart-charging electrical system,” and we left for Vanderbilt (120 miles). By evening, we were all set, and in 1 hour 20 minutes, doctor installed my new pacemaker. He and I talked and joked and laughed through the whole process. Only new med required is blood thinner, which they are regulating as I write. I go to lab every 4 days for INR test. When my hearing started to go, the ear doctor said part of the problem was from when I was blown up in the service; however, most of the loss was caused by the same thing that ruined all my other joints. It seems the 3 little inner ear bones (hammer, anvil, and stirrup) are held together, as are all other joints, and the iron destroyed those joints as well. I do not have any signs of osteoporosis; on the contrary, all the surgeons thus far have commented on how hard and tough my bones are, and yet the joints just wear out, so I am not being treated for osteoporosis. Best Wishes, Bob H. Ralph Schumacher, MD University of Pennsylvania VA Medical Center Philadelphia, PA 19104 [email protected]
REFERENCES 1. Harty LC, Lai D, Connor S, et al. Prevalence and progress of joint symptoms in hereditary hemochromatosis and symptomatic response to venesection. J Clin Rheumatol. 2001;17:220–222. 2. Elmberg M, Hultcrantz R, Simard JF, et al. Increased risk of arthropathies and joint replacement surgery in patients with genetic hemochromatosis: a study of 3531 patients and their 11,794 first-degree relatives. Arthritis Care Res (Hoboken). 2013;65:678–85. 3. Schumacher HR, Straka PC, Krikker MA, et al. The arthropathy of hemochromatosis; recent studies. Ann N Y Acad Sci. 1988:224–233. 4. Schumacher HR. Hemochromatosis and arthritis. Arthritis Rheum. 1964;7:41–50.
© 2015 Wolters Kluwer Health, Inc. All rights reserved.
Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.
