HFE testing: an open letter to the American College of Medical Genetics and Genomics

by Stephen Cobb on July 19, 2015

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Dear American College of Medical Genetics and Genomics:

According to a recent article on GenomeWeb your organization, the ACMG has declared that: “HFE testing shouldn’t be ordered for patients who don’t have iron overload or a family history of HFE-related hereditary hemochromatosis.” Frankly, this is some of the worst medical advice I’ve ever seen published, it defies the logic of real life, and does so in a way that reinforces a number of medical stereotypes.

I invite the ACMG to address the following five realities as they relate to the two limited conditions under which your organization would permit people to find out whether or not they are carriers of a potentially crippling and deadly genetic condition, otherwise know as HFE testing.

A. Re: “a family history of HFE-related hereditary hemochromatosis”

In your version of reality, how do people know if they have a family history of HFE-related hereditary hemochromatosis (HHC)? In the real world, many people don’t know that their parents or siblings or other blood relatives died of, or suffered from, HFE-related hereditary hemochromatosis. Why? Because doctors are notoriously bad at diagnosing HFE-related hereditary hemochromatosis (according to a CDC study, “It took an average of 9.5 years from symptom onset for a patient to be diagnosed with hemochromatosis”).

Did your committee document what percentage of those hundreds of thousands of families in America that carry HFE mutations are aware of this fact? Also how did the committee address the issue of the many people who, for a wide range of valid reasons, have gaps in their knowledge of their family medical history?

B. Re: “have iron overload”

In your version of reality, how would a patient know that they have iron overload? Would they instinctively intuit that excess iron is the cause of their pain and suffering? I assume you are aware that in America today doctors cannot order the iron overload tests unless they suspect you are suffering from iron overload, given that both iron and TIBC were deleted from the comprehensive metabolic panel in 1996 (the damaging effect on incidental hemochromatosis diagnosis can be discerned in historical statistics compiled by the Iron Disorders Institute).

Are you really saying that nobody is allowed to find out if they are an HFE carrier or at risk of HFE-related iron overload until this condition is negatively impacting their health to the point where even a poorly-trained physician is somehow moved to consider that condition?

What was your committee’s finding on the obstacles to iron testing and the current lack of hemochromatosis awareness among doctors? Did your committee consider the billions of dollars that would be saved if people who needed phlebotomies to lower their iron levels got them sooner, rather than later, when the crippling and irreversible damage to joints and organs has already been done?

C. Re: You just don’t know

In our shared reality, we must all admit that we don’t yet know why or when the HFE mutations activate iron overloading; however, if you do know that you have a mutation, then you can watch your diet and lifestyle and get your iron checked regularly. Based on what we do know so far, it is entirely possible that prophylactic lifestyle moderation, like refraining from smoking and excessive alcohol and red meat (changes which have multiple health benefits), may prevent the onset of HFE-based iron overloading.

When a person does know they have an HFE mutation they can insist on an iron test that their doctor may otherwise refuse. Patient initiated iron testing, based on knowledge of HFE status, will almost certainly detect overloading sooner than your average family doctor. So what harm does your committee think it is preventing by keeping people ignorant of the mutation?

D. Re: The deadly HFE legacy

In our shared reality, people inadvertently give their kids hemochromatosis because they don’t know they are carriers. Are you really saying that people must be kept ignorant of their carrier status unless they can prove A or B above? What is your committee’s position on a person’s right to chose not to risk transmission of a potentially deadly condition?

E. Re: hemopause

In the real world, many women with HFE mutation survive the onset of iron loading until menopause, at which point the loading starts. Due to the medical profession’s frequently dismissive treatment of menopausal women, this loading is often not diagnosed until they have suffered irreversible organ damage, condemning them to years of lost work, diminished circumstances, poorly controlled pain, and numerous other harms that society can ill afford.

In conclusion

I have no family history of HFE-related problems but I became the primary care provider for my wife when she was crippled by what turned out to be undiagnosed hereditary hemochromatosis. It is not overstating matters to say that medical ignorance ruined her life. After 10 years of suffering she has still not been able to return to work or claim disability.

That is why I started CelticCurse.org and a Facebook page to raise awareness of hereditary hemochromatosis. It is also why I got tested. That test cost me $99, which thankfully I could afford, even though it meant breaking the laws of New York state to complete the test there without a doctor’s permission, a sad state of affairs that your advice will, I fear, only make worse.

I am further thankful that I do not have any HFE mutations, but I regularly hear from people who do. Many of them have just found out they have the mutation but have already suffered irreversible damage from it. On top of this they must deal with a painful new reality: some of their relatives may have died from undiagnosed HFE-related hereditary hemochromatosis.

If the ACMG would consider re-evaluating its ruling on HFE, I could help put you in touch with victims of HFE mutation and their families. In the meantime, I will continue to recommend HFE testing to anyone who is curious, and proactively urge testing for all women approaching menopause. In my reality, that is the best path to least harm and the best way to minimize death and suffering from hereditary hemochromatosis.

Respectfully,

Stephen Cobb
CelticCurse.org

{ 6 comments… read them below or add one }

Janet July 19, 2015 at 12:29 pm

I was diagnosed with HHC almost 15 years ago. I was knowledgable of this disease as my grandfather was diagnosed with HHC when it was determined this was the cause of his primary liver cancer. By the time he was diagnosed it was too late and he passed away within 6 months of the diagnosis. That was in 1970. In 2000 my mother was diagnosed with HHC, as a result of a hysterectomy, in which her surgeon discovered a nodule on her liver. The surgeon took it upon himself to take a biposy and she was diagnosed with primary liver cancer. We had to educate our mom’s physician about HHC and push the doctor to perform the appropriate tests. Our mother had a liver resect and was in remission for 10 years, when the curse of HHC returned in 2010. Mom would live almost a year after the return of her liver cancer (it was a tumor the size of an orange, not a small nodule). After my mother’s initial diagnosis in 2000, all her children were tested and I drew the lucky straw. Early detection is the only option for this curse, as most patients are very ill or on their death bed once they are diagnosed. Being female, as long as I had a menses, my AFP and Ferritin remained low. Since entering menopause three years ago my numbers are now rising. You have to be one step ahead of this curse. Every year I see my specialist, have my blood work done and an ultrasound of my abdomen. This year was different, as I had to have an MRI due to the elevation of my AFP and Ferritin. I try to not let this disease scare me and take a proactive approach to my treatment, specifically my diet. I am fortunate I quit drinking in 1986 and I quit smoking in 1992. I can’t avoid iron altogether, as there are many nutritious foods that contain it. However, I have the knowledge of eating these foods in moderation. I have begun to feel the physcial symptoms, as I am experiencing more and more joint pain and tire easily. I feel like a rusty tool needing to be oiled. There’s another disease that should be a red flag too, late onset diabetes (over age 60). Both my grandfather and mother became diabetic in their early 60’s. I can’t emphaise enough knowledge is power. You have to bring the facts to your doctor. Also, if your doctor discovers liver dysfunction, chances are they’ll question if you’re an alcoholic’ instead of something like HHC. Be persistent in receiving the appropriate treament.

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Julie Edwards McCartney July 19, 2015 at 2:38 pm

Thank you for posting this Information!! I quickly posted this Article on my Facebook Page….BECAUSE, AS A RN OF OVER 40 Years..I had NEVER HEARD OF THIS DISORDER, AND 3 Months Ago!! I was Diagnosed with Hemochromatosis!! All my MD’s had “missed the signs and symptoms” for YEARS!! I WAS STUNNED..AND THANKFUL…I WAS DIAGNOSED…AND NOW IN TREATMENT WITH WEEKLY!! 500cc Removal of Blood!! I am in my 60’s , slowly, my “Iron Level is going down!!” I live in the Pacific Northwest, and discovered the University of Washington…”Is a Leader in Genetic Testing, and Treatment.”. My Mission, NOW!! is to Educate!! Julie Edwards McCartney RN. And YES!! I AM 1/2 Irish!!

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Carol July 20, 2015 at 4:29 am

I’m so glad to see you are bringing forward the need to educate not only the population of Americans but those in the medical field who do not truly are ignorant of the truths of HH.

My brother found out he had HH many years ago. I being female brought this to my doctor. I brought information from the HH Association since he stated he did not know much about it.

I have a hysterectomy at 25 and was concerned. I was told that my iron levels were good for many years. Fortunately I was in need of care from and Gastroenterology Specialist. He notice the reference to HH and asked if I had the DNA test done. NO is had not.

Long story short. I was tested and HH was confirmed. My iron was at 1747. After many, many years of Phlebotomies I finally reached a maintenance level.

My daughter is HH positive and my son is a carrier. Testing and phlebotomies are now a life long process I will need.

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Rebecca July 26, 2015 at 7:18 am

Hello Stephen Cobb. Hoping this find you and yours well. I came across this site when I googled “Celtic Curse”. I do research on many topics. I am interested in Ancestry and Health care outcomes using DNA. Personalized Healthcare is my goal for all. I have HFE gene and mutation. I am a classic example of pre diagnose, undiagnosed, additional DNA factors that triggered more health issues. My story is slightly long and complicated. But find that ancestry keys into the gene and mutations on certain branches of the world family tree. Best Regards, Rebecca aka DNAGenie.

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Cyndi Brozovich October 7, 2015 at 9:28 am

Mr. Cobb,
Thank you for challenging the medical community. I was diagnosed this past year with Homozygus C282Y. I have been having symptoms for 25 years. Alot of specialty doctors missed this diagnosis including: Family Practice (x2), Cardiologist, Neurologist(x6), Internal medicine (x2), Endocrinologist and Hematologist (x2). If I was not a nurse I wouldn’t have known to ask for an iron panel and then research what would cause ferritin to be over 1000 and then ask for the genetic testing. My joints and bones are damaged, my brain has been effected along with my, heart, liver, kidneys and bladder. I am only 47 years old and can’t pick up my gandchildren. That Hysterectomy they did because my body was trying to shed blood at 22yrs old has caused alot of damage. Just last week I had to correct my hematologist that this is not a rare blood disorder and she is right out of University of Florida. I am with you in the effort to educate our doctors. My hope is that they are not doing this on purpose because it’s free to treat with phlebotomy. I have spent alot of money on useless tests, givin myself MS shots for years and taken things that not only were expensive but that are damaging my liver further.
Thank you,
Cyndi Brozovich

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Suzie November 29, 2015 at 9:20 pm

oh Thank you .. so much for all this information.. I have been suffering with so many things over years.. I’ve lost friends, family, they all think I’m crazy!

i am only 49, and this is just astounding that this even exists… I’m so tired.. I hurt so much… I have spinal arthritis, and injuries, and positive ANA but nothing that screams you are sick! HERE this is what it is. I had liver testing due to medications I take.. they been abnormal lately.. then I threw myself at my dr. of 10 plus years.. I said let me out of this body for just a day or two. I need a break.
He said I need a psychiatrist, he said lets order it all up.. blood work that is.
Also my disability advocate… after 10 months of being supportive says honey anyone ever tell you your a hypochondriac? what?
so the blood work came back all abnormal liver… then HIGH Ferritin… so we get ultrasound of liver.. and sent off to Oncology WHAT? How did I go from skeletal arthritis.. to a cancer doctor?
We did the testing… I had a hyster in 2007…. i tested high for estrogen,
i have the c282y gene… and am non menopausal… i get labs results in the mail a while ago.. and my doctor appointment is Dec 1st. I am going crazy with what ifs!?!
I feel horrible… today i feel like it could be my appendix, fearing I’m just over dramatic I curled up in a ball and just slept 2 days. as I could.
i can’t eat.. i can’t stop crying. will people believe me finally I don’t feel good!?!
What am I facing?
Your information helps.. but I am in so much pain… oh i have a fatty liver.. i am not a big drinker.. i know many more worse that i. i am not a drinker. i don’t smoke or do anything but my prescribed meds.

I am in agony…. people don’t understand my thoughts of suicide. it’s not that i don’t want to be here… i do. i just can’t imagine another day of pain that no one believes…

thank you

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