Amyloidosis: a rare and misunderstood disease
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Amyloidosis is, according to Melbourne specialist Doctor Simon Gibbs, a rare and often undiagnosed disease that needs to be far better understood.
The disease, which currently is incurable, is caused by the growth of abnormal proteins called amyloids. These proteins fold and lodge themselves in the organs and other tissues of the body. Described by Dr Gibbs as having a hard, wax-like consistency, a diagnosis with amyloidosis was once considered a death sentence.
There are many types of the disease, each caused by a different protein. AL amyloidosis is the most common and one of the most serious forms, where malfunctioning cells produce abnormal antibodies which link up to form what are called ‘light chains’.
These light chains then link to make the deposits.
While the prognosis for patients with amyloidosis is still not good, Dr Gibbs says there have been great advances with both tests and treatments in recent times, and what once might have seen a patient given weeks to live now sees them given years.
The doctor: “Patients here can turn a terrible disease into something bearable”
Dr Gibbs is a consultant haematologist specialising in amyloidosis and multiple myeloma. He established and is current director of the Victorian and Tasmanian Amyloidosis Service at Eastern Health's Box Hill Hospital in 2014, one of three amyloidosis specialist treatment centres in Australia.
Dr Gibbs underwent a Clinical Academic Research Fellowship at the National Amyloidosis Centre in London, UK for four years after completing his haematology training in Cambridge, and was the lead specialist haematologist for myeloma, amyloidosis and clinical trials for the Central Manchester University Hospital, UK for two years before returning to Melbourne.
He’s also the specialist treating Alan Greig, who was diagnosed with AL amyloidosis over three years ago. Before attending the Victorian and Tasmanian Amyloidosis Service, Mr Greig was one of those patients given a dire prognosis, doctors at the time saying he had just weeks to live.
“When Alan first came to see us, he was in a bad way, but with intensive supportive care and chemotherapy treatment, we have managed to suppress the amyloid-causing light chains in the blood and Alan has made a remarkable recovery,” says Dr Gibbs.
By increasing the awareness of the disease, and with more accurate tests and treatments now available at specialist amyloidosis centres, we hope that patients like Alan will live longer and with an improved quality of life.
- Specialist Dr Simon Gibbs
“Most likely, the chemotherapy has slowed – not completely stopped, but slowed – the growth of the amyloid deposits. At the moment, we are treating his symptoms and attempting to remove any excess fluid in his body with a variety of tablets."
“Amyloidosis often affects many organs and needs the attention of many specialists. A recent large international study showed that amyloidosis is often misdiagnosed initially, and patients typically see three or four specialists over two years before the diagnosis is made.
“By increasing the awareness of the disease, and with more accurate tests and treatments now available at specialist amyloidosis centres, we hope that patients like Alan will live longer and with an improved quality of life.”
Dr Gibb says the Box Hill Hospital where people like Mr Greig are treated is a centre of excellence.
“Patients here can turn a terrible disease into something bearable,” he says.
The patient: “I’m on a lot of medication. I’m on 1,000+ tablets a month”
Alan and Judy Greig have been through a great deal since discovering Alan was suffering from AL amyloidosis in 2015.
“The early prognosis, when I was diagnosed - I was in hospital for a month and at the end of that month we were told that I had probably four weeks to eight weeks to live,” says Alan.
“‘Go home and do what you gotta do’. That was the prognosis.”
Three years, a lot of pain and tens of thousands of tablets and treatments later, Alan refuses to give in to despair and continues to seek new treatment. Under the direction of Dr Simon Gibbs, his life expectancy has increased, although he’s aware the disease still has the upper hand.
He describes his potential future.
“I am holding my current condition,” says Alan.
“My kidney function is down to 20 per cent, which is not great, but it's holding and it's held for the last few months. The doctors know it is going to deteriorate further, but at what point we don't know.
“My body can’t take any further chemotherapy. I’ve had three different types of chemo over the last eight months, and the last chemo I had three months ago, I started to get a side-effect called peripheral neuropathy which is the killing of the nerve endings and starts in your feet.
“So they ceased any more treatment. At that point, last month, Dr Gibbs said there's no more treatment we can give you. We are just sitting and waiting and seeing now.
'Go home and do what you gotta do’. That was the prognosis.
- Alan Greig
“He said I have the option to have a stem cell transplant. We’ve already harvested the stem cells. But the concern is that will destroy my kidneys completely, so he's not prepared to do that procedure unless the renal doctor can guarantee a kidney transplant.
“So my wife has offered to give me one of her kidneys, if it's a match. We're now talking with the transplant team at Box Hill Hospital who are running a series of tests on both of us, to see with Judy is compatible with me and vice versa. If we can tick that box, we can then go back to haematology and maybe have to stem cell transplant and if it does destroy the kidney, the option of the transplant is all in place.
“It doesn't cure the disease, it won't cure it. It will destroy the new kidney. It’s basically just prolonging my life, that’s all we’re doing. At the moment I feel great, I've got a bit of energy. The doctor said I look great. He said just keep doing what you're doing. I’m on a lot of medication. I’m on 1,000+ tablets a month.”
Stem cell collection: blood goes in, blood comes out
For Alan Greig, the process of growing white blood stem cells for collection means being injected every day with a growth hormone for five days to stimulate activity.
He says this isn’t a pleasant experience.
“Every bone in my body was aching,” he says.
“At that point you go into hospital, and they hook up two lines – one in and one out. They do a blood test to get a quick count of my cells to see if I’ve produced enough to harvest. I was lucky enough to do that on the first go.”
The process of collecting stem cells from the blood is called apheresis. When sufficient stem cells circulate in the blood for collection, a catheter is inserted into a vein. Blood flows through the catheter into an apheresis machine, which separates the stem cells from the rest of the blood and returns the blood to the patient’s body.
The concept is that newly-formed cells are so young they haven’t had a chance to mutate into the amyloid-producing version.
“The first session I did, we got about five million cells,” says Alan.
“I did the procedure again and we got another two million. So we’ve got seven million white blood cells on ice; the procedure uses about two million.”
A marriage made in hospital: Judy’s offer
Alan and Judy Greig married in hospital, after his initial diagnosis. When Dr Simon Gibbs suggested the stem cell process, he framed it in the context of having of a replacement kidney available.
Judy Greig was in the consulting room, and offered hers immediately. But her enthusiasm had to be countered, not just by compatibility but by a series of psychological tests.
“It’s a risk for the donor as well as the recipient,” Alan says.
“We have to speak to psychologists. It’d be no good someone giving me their kidney and then two weeks later saying, ‘oh I’ve changed my mind I want it back’… the process can take six months.”
There are other dangers. Alan’s immune system is dangerously compromised. He can’t afford to get an infection. A bad tooth following chemotherapy cost him a week in hospital. He’s on a monthly drug regime to boost his system.
But he says he can’t bring himself to sit in the corner, to feel pity for himself. He’ll be on holidays soon.
We have to speak to psychologists. It’d be no good someone giving me their kidney and then two weeks later saying, ‘oh I’ve changed my mind I want it back’… the process can take six months.
- Alan Greig
“I believe the mind is very strong. People say I’m very blase, how I talk about it. ‘You’re dying’. ‘They can’t cure you’. You know what? I just run with what I’ve got. It’s no good worrying about the what-ifs.”
Victorian Trout and Redfin Fishing will host an angling fundraiser for amyloidosis research at Lake Wendouree on May 26 from 6am until 3pm. A barbecue at Durham Point will run from noon until 3pm, with prizes for all ages.
People can give to the amyloidosis research fund through Eastern Health Foundation:
By calling 03 9895 4608
By mail (no stamp required): Eastern Health Foundation, Reply Paid 86164, Box Hill, Victoria, 3128