Does not pop up out of the blue! It has many triggers, one verified cause is hemochromatosis/iron overload. And the longer one’s organs are saturated with iron, the greater the risk.
CDC, NIH, John Hopkins and Mayo Clinic studies all concluded that patients with hereditary hemochromatosis (HH) are at a 20-200-fold risk of intrahepatic (Liver) cancer.
The Journal of The National Cancer Institute reported on studies that concluded that after controlling for multiple confounders, subjects who had HFE gene mutations (iron overload) had a statisically significant increased risk of colon cancer.
Multiple studies concluded that iron is an essential cofactor for cancer growth of multiple cancers: stomach, liver, pancreas, gallbladder and colon in particular.
Bottom line: Iron stored in tissues and organs is toxic and opens one up to infection and cancer. Early diagnosis and removal through phlebotomies is crucial to positive outcomes. Just think how many people we could help avoid battling and/or dying from these cancers with awareness, universal screening, early treatment of hemochromatosis.
2. No National Screening Program. Testing Iron Levels Was Once Standard.
Until 1996, ferritin testing (iron level blood test) was on the standard executive blood panel; the primary test run when getting a physical or in the emergency room. It’s used to rule things out and get a baseline. It’s a cheap, wonderful diagnostic tool. High iron levels indicate inflammation and alert doctors to that a patient could have iron overload – follow up and a simple genetic test tell with100% certainty if it’s hemochromatosis/iron overload.
The American Medical Association’s own study concluded there would be a 20 fold increase in detection of HH/iron overload if the ferritin test was put back on the standard panel.
Wrap yourself around those numbers. For example, if 20,000 people are diagnosed annually, we’d see a bump to 400,000 new cases in the USA alone… simply by putting one test back on the panel.
Why was it taken off the standard blood panel in the first place? One answer comes from San Diego, where a lab was double dipping, billing twice, once for the standard panel and once for the iron test, to the tune of $125,000,000 dollars annually. Instead of bringing fines and criminal penalties against the lab and individuals responsible, those in charge of what goes on the test panel simply pulled the iron test off.
It’s painful to think about how many lives could have been saved between 1996 and now, if that test had remained on the standard panel. We should be advancing, not going backward in medical diagnosis, early treatment and preventative care.
Making the ferritin test standard again will also help more people diagnose anemia, wilson’s disease, liver disease, rheumatoid arthritis, other inflammatory conditions and hyperthyroidism. Getting the ferritin test back on the panel is one of three action project’s of ironitout.org
3. Heart Attack, Heart Failure
Iron accumulation in the heart muscle produces irregular heart rhythm and heart failure causing shortness of breath and swelling of the ankles, disability and death.
High blood pressure is another tip off that you might have iron overload. Think of how many people you’ve met or hear about in their 40s who aren’t smokers, heavy drinkers and live fairly healthy who come down with heart issues. Iron overload is the culprit in a percentage of these cases, but it gets overlooked time and again.
4. U.S Medical System Tosses Countless Gallons Of Transfusable Blood
Iron Overload/Hemochromatosis is NOT a blood disorder. It’s a genetic metabolic disorder. HH blood is no thicker or darker, or different in any way. It’s not rusty or higher in iron or anything else compared to the general population’s blood.
And there’s no medical reason it’s been thrown out all these years. It’s because of procedural hurdles which, as of May 2015, were removed nationwide. ironitout.org played a role in the recent FDA ruling that lifted all procedural restrictions on blood donations from people with HH.
There is no medical reason why blood from people with hemochromatosis should be kept from use in transfusions. Think of the lives AND money saved by this source of denotable blood going into veins instead of down drains. The cost of blood goes down and it reduces shortages nationwide.
An article in Blood Journal notes that the use of hemochromatosis blood could augment the US national blood supply. The results of a study at the National Institutes of Health demonstrated that recruitment of healthy hemochromatosis donors augments the intramural blood supply significantly. Patients with iron overload are allowed to donate blood more frequently than other volunteer donors. A healthy hemochromatosis patient will donate up to 60 pints of blood in the first year of treatment and, on average, 8-12 pints per year thereafter.
In Canada, blood from hemochromatosis patients has been used for transfusion since 1991. In Wales and Sweden, hemochromatosis blood used for transfusion impacted blood shortages.
For years pint after pint, week after week has gone into biohazard bags, classified as hazard waste increasing disposal costs which are passed on to the public.
To recap, HH blood can be used in transfusions. As of May 215 all procedural restrictions were lifted, HH donors are highly motivated “super donors” (52 pints in first year). It would reduce blood shortages and eliminate disposal costs.
The crucial next step is getting blood banks, hospitals and the Red Cross to learn about acknowledge and educate staff to new standards of donation acceptance, and actively recruit and advertise for HH donations.
If you are interested in donating your blood, rather than seeing it thrown out, contact your blood bank, hospital or Red Cross directly and demand they accept it for transfusion/educate them and direct them to ironitout.org for information and further questions.
“For years now, we’ve been using blood from the phlebotomies of hemochromatosis patients for transfusions. The patients are pleased to help others in this manner, and the practice has helped greatly in a time of blood shortage.”
-Vincent J. Felitti, MD Southern California Kaiser Permanente San Diego, California
5. 75 Percent Don’t Have Symptoms During Crucial Early Stages = Silent Killer
Allowing iron to quietly build to toxic levels is the most insidious and lethal aspect of this disorder. People feel fine until it’s too late… right up until they need a new liver, get a cancer diagnosis or experience heart failure, diabetes, cirrhosis, crippling arthritis.
Too often, doctors treat people with iron overload for the resulting illnesses, not the source that is causing it. 75 percent have no early symptoms, making a nationwide screening program imperative. The American Medical Association said screening would increase early diagnosis 20 fold, i.e. 20,000 would become 400,000 diagnosed in time.
“ … most physicians have never personally diagnosed a case: all see an unrecognized case in their offices every two weeks.” -Vincent J. Felitti, MD, FACP
“ … many are misdiagnosed as some other, more familiar condition which has the same initial appearance.” -David Baer, MD, FACP
The tragedy is that in 2015, the technology is in place, and simple, inexpensive blood tests exist to catch this, the most common, deadly genetic disorder in the world, but so many people suffer chronic illnesses and die without knowing they had a loaded gun to their head, that could have disarmed before it went off. As iron builds-up in the body one may develop the following symptoms as it accumulates in the brain and other body tissues:
Low sex drive and erectile dysfunction (iron accumulates in the testicles)
Mood swings, especially anger
Digestive problems as iron builds-up in the gut
Fatigue after meals (insulin resistance)
Congestive heart failure
Often when symptoms appear the disorder has progressed. This is why standard screening/ferritin testing and doctor education is so important. When symptoms do appear early they often present as common middle age ailments, so are either ignored or misdiagnosed and often treated with medication for arthritis, or with viagra, testosterone therapies.
National Screening, more info. @ ironitout.org
6. Avg. Diagnosis Takes 10 Years
Why? Because even though we have simple, inexpensive tests we don’t screen the general population. With nationwide screening using first line blood testing, we’d cut diagnosis time by 70 percent and increase diagnosis rate 20 fold.
Another reason? Because in the early stages, when simple treatments can be the difference between a full, healthy life expectancy or chronic illness and death, 3 out of 4 people with HH show little to no symptoms.
“ …while most physicians have never personally diagnosed a case: all see an unrecognized case in their offices every two weeks.” -Vincent J. Felitti, MD, FACP
“ … many are misdiagnosed as some other, more familiar condition which has the same initial appearance.” -David Baer, MD, FACP
The tragedy is that in 2015, the technology is in place, and simple, inexpensive blood tests exist to catch this, the most common, deadly genetic disorder in the world, but so many people suffer chronic illnesses and die without knowing they had a loaded gun to their head, that could have disarmed before it went off.
How many people get Hemochromatosis?
Prevalance of Hemochromatosis: more than 1.5 million Americans (CDC); 5 per 1000 in
Prevalance Rate of Hemochromatosis: approx 1 in 272 or 0.37% or 1.5 million people in USA
Undiagnosed prevalence of Hemochromatosis: 1.7 million Americans (Hemochromatosis Foundation) date formula = Undiagnosed prevalence rate of Hemochromatosis: approx 1 in 181 or 0.55% or 1.7 million people in USA. That’s 3 million people.
A national screening program would lead to pinpointed genetic testing for the disorder.
Genetic testing for hemochromatosis has a number of unique characteristics. Unlike most genetic diseases, hemochromatosis is a single genetic mutation (C282Y) that explains most typical cases. The test is widely available and can be performed at a relatively low cost.
There have been a number of studies that have assessed the psychosocial impact of genetic testing for hemochromatosis -concluding that the test is well accepted by patients and has rarely been associated with insurance discrimination.
For these reasons, the genetic test has become one of the most commonly requested tests and is a powerful diagnostic tool accessible to most physicians. If promoted and advertised to the public, diagnosis would increase dramatically.
7. Rarely Diagnosed, Often Misdiagnosed – Not A Rare Disorder
Hemochromatosis is a the most common, treatable genetic disorder that is rarely diagnosed.
A large population study showed that 1 in 227 Caucasians in North America is homozygous for the C282Y mutation of the hemochromatosis gene. 1 in 300 in the general population. This is the typical genetic pattern seen in over 90% of typical patients; however, 75 percent of C282Y homozygotes are asymptomatic. Approximately 20% of male homozygotes and 50% of female homozygotes will have normal serum ferritin levels.
If the disease is defined based on symptoms, the prevalence would be much lower, and because the symptoms may be non-specific, it is more difficult to assess the prevalence of symptomatic hemochromatosis. This means the current system of screening in the USA catches less than 15 percent of actual cases.
There’s a huge difference when looking at referred patients and participants in population screening studies. Many doctors now question whether the genotype should be used to define hemochromatosis or whether it should be based on the presence of iron overload, independent of genotype.
Bottom line: This condition is extremely common, but hard to catch without a national screening program. Physicians should have a low index of suspicion/not require a high threshold of symptoms, when ordering screening tests, such as the transferrin saturation and the serum ferritin tests, for iron overload.
It’s so deadly because it shows early symptoms in minority. When symptoms do arise they are often misdiagnosed because of their similarity to other ailments, or present themselves as the end resulting illness – cancer, cirrhosis, arthritis, diabetes, heart failure. Doctors treat the resulting conditions rather than look for a source.
To put the size and scope of hemochromatosis in perspective here let’s compare it with three other diseases with much higher name recognition:
ALS 20,000, Muscular Dystrophy 45,300, Multiple Sclerosis 400,000 = 465,300 compared to Hemochromatosis = 1.7 million undiagnosed 1.3 million diagnosed.
That’s three diseases with a combined total of 465,300 compared to 1.7 million people with hemochromatosis.
This is NOT an argument against supporting the fight to end the devastating results of ALS, MS and MDA, and fund cures. No, it’s a wake up call alerting the public to the size and scope of iron overload – a deadly disorder that is not rare at all, but rarely diagnosis, or treated in time. It kills countless people in their prime.
8. Women Get Hemochromatosis At The Same Rate As Men
It’s an erroneous statement proliferated in the medical community that women are rarely affected by hemochromatosis.
As an autosomal recessive condition, hemochromatosis affects men and women equally in regard to the inheritance of the hemochromatosis gene. That’s 50/50.
It’s long been considered that the effects of menses (monthly cycle) and pregnancy significantly offset the lifelong accumulation of iron with tissue injury. But a study of 176 female hemochromatosis patients, matched to 176 male patients with respect to birth year, demonstrated similar hepatic iron concentrations in both sexes. On average, the women in the study showed symptoms around age 50, while men showed signs only two years earlier.
For certain conditions like cirrhosis and diabetes, rates were higher in men, but for others, like fatigue and arthritis, rates were higher in women. Roughly 94 percent of the women, versus 100 percent of men had abnormal measures of iron stores in the body.
It is also important to assess women for this disorder so that genetic counselling can be provided to their children and siblings.
9. Marginalized As An Old White Guy’s Disorder
Even though hemochromatosis is an autosomal recessive condition and presents itself equally in men and women, it’s been widely called an older male disease by the medical community and even though the science says otherwise, the myth persists. Why is this important, because it has a strong influence on why every doctor in America misses diagnosing a case of HH every 12 days.
The challenge is that iron overload builds slowly, usually taking 25-30 years before symptoms appear, but organ damage can be underway long before symptoms are present.
Younger men and women, in equal numbers, are loading iron without anyone’s knowledge. This is why calling it an older white male disorder is so dangerous.
In clinical practice, liver damage effects of iron overload are seen in males in their mid to late fifties at a slightly statically higher rate. Women present arthritis symptoms first and so are often misdiagnosed and treated incorrectly. But in reality, both genders have been loading iron for years.
These are some of the reasons HH has acquired the mistaken identity of an older male’s disease.
10. Cirrhosis/Liver Failure
Iron overload builds in all organs, but the liver is where it loads first and in high deposits. Liver function abnormalities occur in 35-75% of HH patients.
Among organ-related symptoms, liver damage is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous signs of liver disease (palmar erythema, spider angioma, or jaundice), and liver failure (ascites or encephalopathy).
Cirrhosis is due to progressive iron deposition, and it is one of the most common disease manifestations of the tissue damage caused by hemochromatosis. Cirrhosis may be complicated by liver cancer. This condition is also the most common cause of death in patients with hereditary hemochromatosis.
Cirrhosis reversibility after iron removal has been reported, usually early in the course of liver disease, although reversal of advanced liver disease with varices has also been reported.
If treated in time even a scarred liver, pre-cirrhosis can return to normal.
Hemochromatosis is sometimes referred to as “bronze diabetes” because of the appearance of some patients skin (tanned) when they are diagnosed. But Hemochromatosis is also a trigger for Type 2 diabetes.
The prevalence of diabetes in hereditary hemochromatosis has been estimated at between 20-50%. The pathology of diabetes in hereditary hemochromatosis originates in beta cell dysfunction and decreased insulin secretory capacity rather than increased insulin resistance. Patients tend to be insulin-dependent; insulin requirements often fall during phlebotomy, but the need for insulin persists.
Bottom line, early diagnosis and treatment will greatly reduce type 2 diabetes cases in people with hemochromatosis.
12. Lack of Awareness
What we don’t know CAN kill us. There are thousands of personal stories, many tragic, about discovering this killer disorder too late.
Some are success stories where the disorder was discovered in time – many of these stories follow a similar theme – the patient came in for something else, dumb luck, they were very proactive about their health, or a sharp doctor who has looked beyond outdated recommendations and faulty conventional wisdom saves their life.
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