As we, hopefully, move closer to a more integrative approach to understanding disease processes in our patients
As we, hopefully, move closer to a more integrative approach to understanding disease processes in our patients, and further away from simply “diagnosing” and treating, it seems prudent to review a very common cause of joint arthropathy, namely, hemochromatosis.
Hereditary hemochromatosis is now considered the most common genetic disorder in Caucasians with one in 250 testing homozygous for C282Y HFE gene. There are other distinct iron overload forms that affect nearly one in 67 African-Americans. In general, hemochromatosis has been noted in every ethnic background.
What is it?
Hemochromatosis is a condition of iron overload either due to genetics, or environment, or a combination of both. The condition occurs when the gastrointestinal (GI) tract has been come overly efficient in absorbing iron and then depositing it in tissues other than the reticuloendothelial system where it would be non-toxic. Iron overload may occur from excess iron consumption, which is why monitoring supplementation is always necessary.
So, why is this important?
Iron, obviously, has a very useful role in the body – however, in overload states, iron will promote oxidative stress, producing reactive oxygen species that are very damaging to tissues such as the heart, liver and joints. This damage is often irreversible and can lead to organ failure. This condition is one that may be “asymptomatic” in the early stages, but, over time, iron depositing in the heart, liver, pancreas, pituitary gland and joints affects the function of these tissues so severely in some cases as to cause symptoms. If left untreated, iron overload can destroy these tissues and lead to death.
Signs and symptoms of iron overload
Again, iron overload may be asymptomatic, which is why routine screening is a very wise idea before any permanent damage occurs. Watch for such signs as cardiac dysfunction, liver damage, abnormal blood glucose or diabetes, and/or symptoms such as endocrine disorders, increased infections, chronic abdominal pain, neurological symptoms and musculoskeletal disorders. These clinical presentations should make you consider evaluating your patient’s serum ferritin levels.
As many of our patients present with joint pain, this article will focus on joint arthropathy presentation Many of these patients may have undetected hemochromatosis. Joint manifestations present in over 80 per cent of people with hemochromatosis. Any patient presenting with polyarthropathy, including osteoarthritis (OA), calcium pyrophosphate dihydrate deposition disease, pseudogout, rheumatoid arthritis (RA), ankylosing spondylitis – related to early calcification of the intravertebral disk (IVD) and ligaments – should be screened for iron overload.
I think it is important to emphasize that, while many of the noted signs may seem ubiquitous to many conditions, the radiographic of feature of hook-like osteophytes that point proximally rather than distally, as seen with RA, may be considered pathognomonic to iron overload.
The best test that correlates with body iron stores is serum ferritin. Considering how prevalent this condition is, the low cost of this screening test and the fact that many people are asymptomatic until organ damage is severe and irreversible, having just about everyone ensure they have their serum ferritin tested seems justifiable. One may also combine a C-reactive Protein (CRP) test to evaluate whether there is an inflammatory role in elevating the serum ferritin, as this can happen in acute cases or infection, inflammation, and a transferrin saturation. The transferrin saturation is a good marker, along with serum ferritin, to pick up the genetic causation to hemochromatosis before damage ensues.
Females: Less than 15 mcg/L = iron deficient, 30-70 mcg/L = health iron status; greater than 200 mcg/L = iron overload refer to GP for phlebotomy treatments
Males: Less than 20 mcg/L = iron deficient, 30-70 mcg/L = health iron status; greater than 300 mcg/L = iron overload refer to GP for phlebotomy treatments
Anything greater than 40 per cent with high serum ferritin should be suspect of genetic hemochromatosis.
If CRP is high and serum ferritin is high, one should refer for evaluation of inflammatory process and liver disease – possibly cancer, hepatitis or alcoholic liver disease. Typically, CRP will not be elevated in just iron overload, but when both are elevated further evaluation is needed. Normal CRP should be below 2 mg/L.
Of course, the best treatment of hemochromatosis is early detection and preventing irreversible damage. Those who do test positive should be referred for regular phlebotomy to reduce iron levels and be counselled on nutritional advice to reduce dietary intake of iron such as beef, pork, liver and spinach. Supplements with iron should be avoided as should vitamin C supplements that will increase iron absorption. Foods that reduce iron absorption include tannins from tea, phytates in grains, soy protein and calcium supplements.
Use of nutritional supplements to reduce the oxidative stress induced by high iron would be recommended, excluding vitamin C. Silymarin has a protective role at the liver and CoQ10, which also possesses antioxidant activity, with the heart and hence, these would be good strategies to implement.
As one of the most common genetic disorders that can be asymptomatic, or present with advanced organ/joint damage, hemochromatosis is a condition that can, with early detection, be managed. Considering the low-cost, low-invasive testing of serum ferritin, it would make sense to suggest all patients be screened routinely and more so those who exhibit symptoms that could be a result of iron overload.
A special note of mention of Dr. Vasquez, whose unrelenting desire to improve the health of many and dedicated work with practitioners was a reminder of this particular condition and its relevance to the doctor of chiropractic.
|Features of Iron Overload
Possible musculoskeletal manifestations: joint and bone pain; swelling; loss of motion; subcutaneous nodules; bursitis; tendonitis; tenosynovitis.
Sites of involvement: metacarpophalangeal joints; wrist; hip; knee; shoulder; ankle; metatarsophalangeal joints; elbow; spine; symphysis pubis; Achilles tendon; plantar fascia.
Radiographic findings: joint space narrowing; sclerosis; cysts; pseudocysts; osteophytes; hook-like osteophytes that point proximally at the metacarpal heads (high specificity for hemochromatosis); flattened or “squared-off” metacarpal heads; generalized osteopenia; chondrocalcinosis; subchondrial cysts; carpal erosions; calcific tendonitis.
List from: Vasquez A. Integrative Rheumatology: Concepts, Perspectives, Algorithms, and Therapeutics. The art of creating wellness while effectively managing acute and chronic musculoskeletal disorders. Volume 1: Autoimmune Disorders. Fort Worth, TX; Integrative and Biological Medicine Research and Consulting, LLC: 2007.
- Ly J., Beall D, Ahluwalia J. Hemochromatosis Arthropathy. Appl Radiol. 2006;35 (8).
- McCurdie I, Perry J David. Haemochromatosis and exercise related joint pain. BMJ 1999 Feb 13;318. (7181):449-451.
- Vasquez A. Integrative Rheumatology: Concepts, Perspectives, Algorithms, and Therapeutics. The art of creating wellness while effectively managing acute and chronic musculoskeletal disorders. Volume 1: Autoimmune Disorders. Fort Worth, TX; Integrative and Biological Medicine Research and Consulting, LLC: 2007.
- Vasquez A. Musculoskeletal disorders and iron overload disease: comment on the American College of Rheumatology guidelines for the initial evaluation of the adult patient with acute musculoskeletal symptoms. Arthritis Rheum 1996 Oct;39(10):1767-8.
Dr. Victoria Coleman is a 1994 graduate of CMCC and a BSc in Kinesiology specializing in Fitness Assessment and Exercise Counseling. In working with patients over the years, she made it her mission to teach people that everything you eat, breathe, drink, and think affects your health. This fuelled her desire to further expand her career and continue her studies. She is an avid follower of the Institute for Functional Medicine and is currently working toward her certification in Functional Medicine. Dr. Coleman is also the president of Douglas Laboratories/Pure Encapsulations Canada.
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