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Although often misdiagnosed, an ancient blood disease is
still making its presence known in those of Irish extraction.
by Colleen
Dougher
Sandra Thomas loves a good St. Paddy’s Day party.
It’s not the great Irish
music and dance, the corned beef and cabbage, or
even the abundant supply of Guinness. It’s just that having all those people
of Celtic heritage gathered in one place makes her mission so much
easier.
For 16 years, Thomas, who runs American Hemochromatosis
Society out of her Delray Beach home, has been using St. Paddy’s Day as a way to tell people about what
she calls "The Celtic Curse," a disease that deposits iron in
the heart, joints, liver, pancreas and pituitary gland, and eventually
"rusts" the insides of bodies.
Her group does everything from distributing literature at
Irish festivals to placing fliers in Palm Beach County Irish pubs and
using the opportunity to contact the media about this common, yet
little-known genetic disorder.
While no one is immune to hemochromatosis, those with Irish,
Scottish or British heritage have a significantly higher chance of
carrying the gene mutation that may cause them to develop the potentially
deadly disorder.
Some researchers believe that hemochromatosis originated
more than 40,000 years ago in the area we now know as Ireland with a
single person whose genes mutated so that he or she could over-absorb
iron to compensate for an iron-poor diet.
Today, with iron-enriched foods, iron supplements and plenty
of red meat, there’s no need to pull
in extra iron, yet many still carry the ancient mutated genes that cause
their bodies to do so, at toxic levels.
Left untreated, hemochromatosis can lead to everything from
early menopause and infertility to diabetes, heart failure, cirrhosis,
primary liver cancer and even death. But if caught before damage is done,
hemochromatosis patients can be saved, and their health restored through
a process called bloodletting, or phlebotomies.
Initially, a patient may be required to have a pint of blood
drawn once or twice a week, until excess iron is depleted. Each time
blood is drawn, the brain tells the red blood cells they need iron, so
the blood taps the iron stored in organs and tissues. Eventually, and
sometimes this takes a few years, the stores of iron are depleted.
Afterward, a patient will be required to have phlebotomies maybe three or
four times a year to keep iron from accumulating.
Despite the simple cure, many hemochromatosis patients
remain untreated and die from diseases caused by iron overload. Even
though many exhibit symptoms and simple, relatively inexpensive tests are
available, they’re often not
administered.
The Centers for Disease Control now calls hemochromatosis
the most common genetic disorder in the United States, one that affects
33.5 million Americans. An estimated 32 million are silent carriers,
meaning they exhibit no symptoms, while 1.5 million have a double gene
mutation because both parents carried the mutant gene, which puts them at
high risk. Yet many doctors still believe what they were taught in
medical school —
that hemochromatosis is a rare disorder that only strikes middle-aged or
elderly white men.
"They want to see someone who’s at death’s door before they can actually
consider hemochromatosis," Thomas says. "And that’s the old training, this
middle-aged man coming in with a swollen belly, enlarged liver, cirrhosis
of the liver, jaundice, diabetes, heart bad. That’s hemochromatosis."
But since the genes that cause hemochromatosis were
discovered in 1996, several studies have been done that revealed that
women, once thought to be spared from the disease because they lose
excess iron when they menstruate each month, are not immune from the
disease. Nor are African-Americans, Hispanics, or children. In fact, no
one is immune, and people in their 30s — and some even younger — are already dying
by the time they’re diagnosed.
Yet experts also have discovered that if treated early, damage
to organs and tissues is completely preventable. Ask a doctor about being
tested for the disease, however, and there’s a chance you’ll be laughed out of
the office.
Teach your doctor well
But Thomas, whose mother died of liver cancer caused by iron
overload, isn’t laughing. Nor are
others who struggled for years to find out what was wrong with
them, only to be diagnosed too late.
Sixteen years into her awareness campaign, Thomas, a silent
carrier of the disease, still finds herself talking to people whose
doctors know they have high iron levels and won’t treat them because they don’t
have what they believe to be the classic symptoms (i.e., they’re not at death’s door).
In 1997, a year after researchers isolated the mutated genes
that cause hemochromatosis, a genetic mail-order test was developed that
allows people to be screened for the disease. Those who test positive for
the gene can keep their iron levels in check, and prevent iron from ever
invading their organs and destroying their lives.
Thomas is on a mission to make people aware of the $125
test, as well as simple blood tests (serum iron, total iron binding
capacity and serum ferritin) that doctors seem so reluctant to give.
It’s not that there’s a
conspiracy against patients with iron overload. It’s just that many doctors haven’t been educated about the latest facts
regarding the disease.
And since people aren’t routinely tested for iron
overload, doctors must be able to recognize warning signs. Unfortunately,
the symptoms of hemochromatosis are often serious diseases themselves,
and doctors wind up treating the heart trouble, the diabetes or the liver
cancer without looking for an underlying cause.
In other cases, symptoms are all over the map, ranging from
elevated liver enzymes, cirrhosis, tender swollen joints, heart problems,
changes in skin pigmentation (turning bronze without going to the beach),
depression, increase in blood glucose levels, a swollen stomach or a
heavy feeling (mostly on the right side of the belly), redness in the
palms of the hands, an enlarged spleen, chronic fatigue and, believe it
or not, anemia.
While it may seem unlikely that someone with anemia, which
we’ve been trained to think
of as iron deficiency, could suffer from iron overload,
they can. One may be anemic (meaning the blood has a deficiency of red
blood cells) and still have loads of iron stored in their organs. Yet,
many think nothing of popping iron supplements without knowing their iron
storage levels, and some do so on the advice of their physicians.
Roberta Crawford, who heads the Iron Over Diseases
Association in North Palm Beach, nearly killed herself with iron pills
prescribed by doctors. While they diagnosed her with anemia, they never
tested her iron storage levels. Years later, she would learn that her
body was storing too much iron, not in her blood but in her vital organs,
and the iron pills added to the problem.
And it wasn’t
just one misguided physician who prescribed the
supplements, she says. It was several doctors across five states.
Finally, in 1978, she was diagnosed with hemochromatosis. As
is often the case, her diagnosis came by accident. Her liver was
enlarged, and since she didn’t drink, her doctor ordered a
biopsy to look for cancer. What they found instead was a liver loaded
with iron.
That’s when her doctor told
her she had a "rare and interesting disease,
hemochromatosis."
She would soon learn, however, that, fascinating as the
disease is — she’s still
researching it more than two decades later — it’s not rare. "What’s rare," she says,
"is getting diagnosed."
Equally rare is finding a doctor who understands that
prescribing iron supplements to people whose iron levels haven’t been properly tested could be like
giving a bottle of Jack Daniel’s to someone with cirrhosis of the
liver.
The supplements become particularly risky if they are taken
by people who have family histories of heart trouble, diabetes and liver
problems, or their liver enzymes are elevated.
One could try explaining this to one’s doctor, but Thomas recommends
that people choose their words carefully. Many doctors don’t take kindly to patients
who want to educate them.
It’s what she likes to call
the "Me-Tarzan-You-Jane Syndrome."
And those of Irish heritage, who are among the most likely
to have this disorder, have even more to overcome when they try to
convince a doctor that they may have hemochromatosis.
The disease tends to assault the liver. So does alcohol. And
whether the reputation is earned or not, the Irish have long been known
for their love of drinking. When a doctor looks at a report that reveals
elevated liver enzymes —
the sign of a distressed liver — iron overload isn’t always the first thought
that comes to mind.
Consider the story, posted on the Internet, of Patrick, an
Illinois man who was sent for an ultrasound when his doctor discovered
high iron levels and an enlarged liver. The results showed a fatty
infusion in his liver and the doctor advised Patrick, who only drank
socially, to stop drinking, which he did. After months of abstaining, he
was retested, but his liver still hadn’t returned to normal.
When tests for hepatitis came back negative, his doctor
insisted he was still drinking. Each year, he returned for a checkup,
only to find his liver enzymes still elevated.
When Patrick asked if a genetic problem could be affecting
his liver, the doctor laughed. The doctor continued to insist Patrick was
lying about the amount he drank and urged him to get help for alcoholism.
Meanwhile, Patrick had read a story about a guy called
"Iron Man" who was diagnosed with hemochromatosis after setting
off metal detectors at airports because of the high level of iron stored
in his body. Patrick asked his doctor if he could have this and his
doctor reluctantly agreed to send him to a specialist who took one look
at his lab reports and said, "You have hemochromatosis."
It took eight years for his doctor to refer him to the
specialist. Later, the specialist told Patrick how lucky he was that his
doctor recognized his symptoms.
But even after Patrick was diagnosed, his regular doctor
only sent him for a phlebotomy four times. Fortunately, Patrick sought
the help of an experienced hematologist who explained that he would need
at least 40 treatments.
With those treatments, his liver enzymes finally returned to
normal.
One of many tales
It seems that behind every story of diagnosis, there’s a much longer story of the struggle for answers.
And the story of Thomas’
mother, Josephine Bogie Thomas, is no different.
In 1981, when her mom started feeling tired and began
limping, her doctor told her she probably had osteoporosis, and that her
aches and fatigue were common for a woman in her early 60s.
He suggested that she might one day need a hip replacement
and ran some tests, which picked up on her elevated liver enzymes, a
common indicator for hemochromatosis. But her doctor, never suspecting "a
rare disease that only affects men," couldn’t figure out why her liver
enzymes were elevated, and Josephine Thomas spent the next few years
bouncing from one doctor to the next seeking answers.
Then, in 1983, she was diagnosed with advanced ovarian
cancer and her doctors ordered a CAT scan of her liver. According to
Thomas, the radiologist noted in the accompanying report that her liver
was dense with iron, but never mentioned it, perhaps because he didn’t expect her to beat the cancer.
But after two surgeries and eight grueling months of
chemotherapy, she did. Later Thomas, while sifting through her mom’s medical records, discovered the radiologist’s note, investigated
it and got the diagnosis that would explain her consistently elevated
liver enzymes: hereditary hemochromatosis.
By this time, Josephine Thomas’ body was loaded with iron and she had
developed cirrhosis.
The 103 pints of blood she gave during regular phlebotomies
returned her iron levels to normal and she lived 14 more years. But
eventually the damaged cells in her liver turned malignant, and last May
she died of advanced primary liver cancer.
But not before educating everyone within earshot about the disease.
Even while in the hospital for tests and treatments, she distributed
literature about the disease to nurses, doctors, medical students,
visitors, janitors, anyone who would listen.
Thomas and her father were devastated when she died, but
found comfort in knowing that there would be no more needles stuck in her
abdomen, no more CAT scans, ultrasounds, biopsies or staring at a fax
machine waiting for lab results. No more jaundice, nausea or looking like
she was eight months pregnant, and no more helplessness, worry or pain.
"Her dying wish," Sandra says, "was that
everyone would get tested for hereditary hemochromatosis/iron overload,
so they wouldn’t have to go through what
she was going through."
Warnings fall on deaf ears
Sandra Thomas continues to spread the word, but unfortunately,
her warnings, like her mother’s, sometimes fall on deaf ears.
Even the nurses who cared for her mother — people who consistently see
patients dying of liver cancer brought on by iron overload — turned down her offers
for free genetic testing.
Not that the test kit is complicated, time-consuming or
particularly expensive. It costs about $125 and consists of two long
swabs that you rub several times on the inside of each cheek. Afterward,
the swabs are mailed to a lab. Within a week, the results are mailed to
your doctor.
If it were up to Thomas, genetic testing would be done at
birth. But not all of the organizations struggling to make people aware
of hemochromatosis support genetic testing.
Crawford makes it clear on the Iron Overload Disease Association’s Web site that her group does not recommend
DNA testing. While labs can test for gene mutations, not all the genes
have been discovered yet, so the test could miss people who have iron
overload, she says. And a negative result, could make it harder for
people to convince their doctors that they may be suffering from the
disease.
Crawford, author of The
Iron Elephant, which has become a bible for many
hemochromatosis patients, recently heard from an internist who referred a
patient with hyptertension, cirrhosis and blood tests indicative of high
iron storage levels to a San Francisco clinic for bloodletting. When a
genetic test turned up negative, the internist told her, the clinic
concluded it was not primary hemochromatosis and recommended against
phlebotomy.
Crawford says this story is typical. At least once a week,
she says, she gets a call from someone whose doctor refuses to treat
dangerously high iron levels because of a negative DNA test result.
The way Thomas sees it, however, this is not so much an
argument against genetic testing as it is an argument for finding a
doctor who knows about iron overload, or is willing to learn.
Thomas was national director of public education for
Crawford’s organization for 10
years, but in 1998 started her own organization, where she takes a
more active role in promoting genetic testing.
And while she’ll be the first to admit that the
genetic test should be done along with blood tests, she says getting a
doctor’s attention is often difficult.
A negative test may not necessarily mean that a person doesn’t have iron overload, she says, but
a positive result helps identify those at high risk for developing it. It
also sounds a warning bell for family members who, in turn, get tested.
And having that positive result, she says, makes it easier to persuade a
doctor that they should get a blood test.
"If you say ‘Well, look at this result. I have the
mutation,’ 99 percent of the
doctors are going to back down on that one," she says.
The reality is that many people are too intimidated to
confront their doctors. Without confirmation from the genetic test that
they’re at high risk, many
won’t push their doctors to
look further to find out conclusively that they have hemochromatosis.
"If you did a survey of practicing physicians, you
would probably find that 95 percent of them still think it’s a rare disease," says Geoffrey
Block, a liver and genetic disease specialist at the Hemochromatosis
Center at University of Pittsburgh Medical Center, where Thomas’ mother was treated.
And that misconception is costing people their lives.
The CDC, Block says, has done a number of studies on how
long it takes people with the classic symptoms to be diagnosed.
"On average," he says, "it took seven years
and 10 physicians. And this [study] was on people who were aggressive
enough about their personal health care to not take ‘It’s all in your head’ as an
answer."
Meanwhile, Block’s clinic is full of the people who
didn’t get that answer soon
enough. He is now treating 75 to 80 patients who have cirrhosis and another
seven who have cancer, and all tested positive on the genetic screen.
And while he also has patients who have iron overload for
other reasons, he says, he has no doubt that genetic testing early in
life would help a huge number of people who have an 80 to 90 percent
chance of developing iron overload.
As people continue to be diagnosed, doctors will be trained
to recognize the disease, Block says. Eventually, there will be routine
blood screening.
But it could take 10 to 15 years, he says, and in the
interim people will die.
Fortunately, Block says, many will learn about this disease
through grass-roots groups like American Hemochromatosis Society and Iron
Overload Diseases Association, the two Palm Beach County organizations
with decidedly different views on genetic testing.
"They may disagree and squabble about what’s important and what’s not," Block says. "But
they’re both part of trying to promote awareness, and
to tell people that if you have a suspicion, you need to follow it up and
pursue it."
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