Hemochromatosis is the number one genetic disorder while, paradoxically, it is also the one that is most often dismissed as "rare." Because it so often goes unrecognized, it is seldom diagnosed before it is clinically manifest. Most of the suffering associated with the disease is preventable if potential victims are detected in time; even when it has become symptomatic, many serious complications are reversible, but only by timely diagnosis and treatment.
It's not a blood disease as the name suggests; the disorder only becomes a disease when sufficient iron has been accumulated to cause the complications. It is thus the only inherited disorder of which all the complications are preventable and the only one that is treatable, with the right intervention. It is transmitted as an "autosomal recessive" disorder. The term homozygote is used to describe those individuals who develop the full-blown disease because they have inherited two hemochromatosis genes — one from each of their carrier parents — and they are thus predisposed to absorb more iron than they are able to excrete. Every child of a homozygote will be a "carrier" — for whom the term is heterozygote — and carriers have been known to exhibit some of the symptoms.
WHAT CAUSES IT?
Primarily an inherited condition, the disease (which in itself is many diseases) has also been known to develop as a result of long-standing dietary intake in sufficient quantity, alcohol excess, multiple transfusions, and other causes, all of which — to make all this easier to comprehend — would come under the heading of "secondary" hemochromatosis.
WHAT ARE THE SYMPTOMS?
They are widespread. Once the excess iron lodges in a vital organ, damaging or even destroying it, it causes much suffering, frequently in the form of diabetes that is often resistant to insulin. When the skin takes on the characteristic colour (in some cases, a "tan that never fades"; in others, a slate grey), this is commonly referred to as "bronze diabetes." Symptoms vary, but many hemochromatotics experience chronic fatigue, severe abdominal pain, bouts of nausea, diminished memory, and disorientation for many years before diagnosis. In later years, there could be some degree of hearing loss.
One of the earliest symptoms is arthritis (actually pseudo gout) of the thumb joint and the knuckles of the first and second fingers.
The liver, heart, endocrine glands (glands of internal secretion, such as the pancreas), skin and joints are principally affected, and cirrhosis, cardiomyopathy (disease of the heart muscle), diabetes mellitus, hypogonadism (deficient activity of testis or ovary) and what is too often thought to be arthritis are the usual manifestations. By the time clinical manifestations appear — in other words, signs that have become sufficiently evident for the examining physician to detect them — iron overload is eventually fatal unless the iron is eliminated.
It is frequently misdiagnosed as chronic hepatitis, gall bladder and thyroid problems, polycythemia, and iron deficiency. As some sufferers exhibit pronounced mood swings and other personality changes such as severe depression, anger, confusion or diminished memory, they can be incorrectly treated for mental illness. In some cases, Alzheimer’s has been suspected.
Victims who are not discovered soon enough may develop cancer of the liver; hence the importance of family screening and early treatment of affected individuals cannot be emphasized too strongly.
- All first-degree relatives should be investigated.
- A complete iron profile (consisting of tests for serum iron concentration, percentage saturation of transferrin and serum ferritin concentration should be performed.
- Fasting before undergoing tests is essential.
In my next article on this subject, I'll look at how the condition is treated, iron content in our food, and some celebrities who've suffered from this disorder.Powered by Sidelines