This entry marks part four in a series on Hemochromatosis.
When friends and family shake their heads apologetically and tell people that I have "iron on the brain," they’re quite right, but fortunately the expression is a metaphor and should not be taken literally. I admit that I stare at people — on buses, in the line-up at the supermarket, where I also sometimes catch myself surreptitiously examining the cashier’s hands — everywhere! Wherever else I am given an opportunity to do so, I can’t resist studying hands, the texture of hair, and men with hairless arms and legs. Anyone who is of concern! In the days of Jane Austen and the like, smitten young damsels often resorted to dropping a handkerchief in a strategic place, hoping that the targeted swain would pick it up and return it, thus initiating a conversation. I don’t drop hankies. I drop hemochromatosis pamphlets.
Over the years I have seen too many misdiagnoses and wept with too many victims of delayed intervention to give up now. After all, Hemochromatosis — iron overload — is not a disease until it is allowed to become one, and all the dreadful involvements of this, most common of all genetic disorders, are preventable by early diagnosis and treatment.
It was sheer torture when I worked as a chaplain at a hospital and, standing at the bedside of a patient who had become totally resistant to insulin, would notice the skin colour and the typical knuckles of “bronze diabetes,” while prohibited by protocol from saying or doing anything about it. Equally heartbreaking to me now is the fact that, even when blood and genetic tests have provided proof of someone’s condition, first-degree relatives are not always informed of the fact that they could possibly be a risk. (By the way, not everyone develops "the tan that does not fade," and redheaded people can often seem to be paler than normal.)
Sometimes It's Impossible to Keep My Mouth Shut
I clearly recall two occasions on which I could not refrain from speaking out. One was when, before I could stop myself, I asked a young lawyer why his fingernail nails were such a funny shape — flat, perhaps to the extent of being spoon-shaped. He has been on phlebotomy therapy (blood-letting to rid his body of excess iron) for three years now, and his wife is delighted that his violent mood swings are a thing of the past.
The other time was when, in South Africa, I went with a friend to visit his brother in a psychiatric hospital, and, leaving them to visit alone for a time, I wandered out into a hallway where a deeply tanned, very obviously dejected young man sat sprawled in a chair, with his chin almost down to his chest. I found a seat beside him and, after a prolonged silence, he suddenly began to speak to me, pouring out a tale of woe as if he had been waiting a long time for someone who might be willing to listen. He had been having shock treatment among other things, he confided. He was diabetic and had some problems with an irregular heartbeat.
He paused to stub out his cigarette, immediately reaching for another and, as he cupped his hand around the match to light up, my eyes were riveted on the swollen knuckles of his first two fingers. If I had harboured any doubts that his symptoms pointed to full-blown hemochromatosis, they soon dissipated. As though encouraged by my attention, he went on to share his whole family history with me. He talked at length and with obvious pride about his mother — a doctor — in South Africa of all places where, at that time, one of the most knowledgeable researchers in the world was to be found! All too often, when I used to ask physicians why they did not take hemochromatosis more seriously, no matter where I happened to be, the response would be that be that they had "never seen case and did not expect ever to see one," or it was only a "question in an examination."
This story was to have an almost farcical sequel when the "rusty" ankles of the person we had come to see in the first place proved to be the clue that led to a diagnosis of HH!
They are numerous and have been discussed in a previous article, but it cannot be stressed often enough that arthritis of the thumb joint and the knuckles of the first and second fingers is suspicious, as is sudden onset diabetes, advancing rapidly and becoming progressively more resistant to insulin.
We've all seen old-time movies in which some gout-ridden old geezer in a wicker bath-chair, his foot bandaged to the size of a watermelon, either falls out of his conveyance or has someone bump the throbbing appendage, provoking the unfortunate victim to bellow with pain while reducing the audience to paroxysms of mirth; however, gout is no laughing matter, and "pseudo-gout" — so often described as arthritis — is easy to spot. It can be so excruciating at times that even the weight of bed sheets hurt.
What’s The Difference Between "Real" and Pseudo Gout?
Like the more familiar affliction, the "pseudo” form is a condition that causes pain, redness, heat, and swelling in one or more joints. (Mostly those of the knees, thumbs, wrists, and the one between the pubic bones in the front of the pelvis.) Sufferers will know at once what is meant by 'the painful handshake’, as one of the earliest symptoms is ‘arthritis’ of the thumb joint and the knuckles of the first and second fingers. This telltale swelling is a classic manifestation, and, if I had my way, the knuckles of every person afflicted with arthritis would be examined for possible hemochromatosis.
What Causes It?
Deposits of calcium pyrophosphate dihydrate crystals in a joint, which weaken the cartilage and cause it to break down more easily. The presence of these tiny CPPD crystals in the joints, and the body's reaction to these crystals, creates often agonizing inflammation as ‘A’ cells rush to attack the crystals. A fruitless exercise, as the crystals are indestructible, and, during one of the attempted ‘A’ cell rescue operations, they lose the battle — causing the patient’s immune system to be temporarily compromised, as a result.
Often dismissed as arthritis, Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPDCDD) has been reported by many homozygous people (those carrying two HH genes) as having been the presenting symptom of the onset of hemochromatosis. Over the years I have learned, however, that that it is also possible for heterozygotes' (carriers of only one gene) to be afflicted. I have known some with knees so swollen that the fluid has had to be aspirated. Physicians do not readily prescribe oral cortisone for the treatment of CPDCDD, but, from my own experience, I can tell you that an injection into an afflicted joint can work wonders!
To recap: The agony of both conditions is due to crystal-induced inflammation, but whereas real gout is caused by uric acid, Chondrocalcinosis — known as "pseudo-gout" and sometimes "acute arthritis" — is caused by deposits of Calcium Pyrophosphate Dihydrate Crystals. If the "pyro” part of this conjures up fireworks, it is justified! Pseudo Gout — nearly as common as the other form — also causes excruciating pain during a flare-up.
Can People Die of Untreated HH?
Sadly, yes. The common causes of death from HH — sometimes also listed as HHC or IHC — are cardiac failure, arrhythmia (irregularity in the beating of the heart), hepatic (liver) failure, hepatoma (tumour of the liver) or other malignancy, or the complications of diabetes. Before the advent of insulin, diabetes topped the list. Formerly, when the diagnosis was made clinically, cirrhosis and skin pigmentation were almost always present; often accompanied by diabetes mellitus, hypogonadism (diminished sexual function), arthritis and cardiac failure. Today the picture is changing, as diagnostic methods improve.Powered by Sidelines