Shining a light on amyloidosis

Danielle Barron spoke to Karina McCarthy about why her family wants their father’s passing from amyloidosis to bring about heightened awareness of the rare blood disorder

Amyloidosis is a group of rare, serious diseases that occur when an abnormal protein called amyloid builds up on organs, nerves and tissues. As the amyloid accumulates, it interferes with their normal function. The most common form of amyloidosis is light chain amyloidosis, also known as AL amyloidosis, which accounts for about 60% of diagnosed amyloidosis cases.

Like multiple myeloma, AL amyloidosis is a plasma cell disorder, with the plasma cell at the heart of the problem. The plasma cell makes an abnormal protein which becomes “misfolded” and eventually forms amyloid. A rare condition that is thought to affect only around 40 people in every million, the problem with amyloidosis is that the symptoms can be both myriad and non-specific. Symptoms of amyloidosis vary among patients and include generalised tiredness, weight loss, feeling lightheaded, numbness or a tingling feeling in hands or feet, easy bruising, purple spots or bruising around eyes and swelling in the abdomen, legs, ankles or feet. Patients may also experience shortness of breath, reduced appetite and altered bowel habits. This vague symptomatology makes diagnosis more difficult, as it already tends to be with rare diseases, and means treatment may be less effective if initiated too late.

Karina’s father Thomas Peter McCarthy had recently retired from his career as a teacher, but he began to experience bothersome health symptoms. “He was quite unwell,” explains Karina. “He had fainting episodes and diarrhoea and experienced significant weight loss.”

All of these symptoms were being investigated both by his GP and specialist doctors, she says. “He was being investigated for all sorts of things, including carcinoid tumour, which is a type of neuroendocrine tumour, and told to go gluten-free for suspected coeliac disease – he was being actively managed and while amyloidosis was mentioned in his notes at one point, it wasn’t followed up on.”

Thomas Peter had been dealing with these symptoms for three years when one day he visited a different hospital and the gastroenterologist seeing him had a suspicion that it might be amyloidosis, having diagnosed the condition in another patient just recently. “She asked him if he had been experiencing numbness and tingling in his hands, which he said yes he had,” Kartina says. “We had been focusing on the diarrhoea and weight loss and he had been keeping other symptoms to himself.”

Treatment for amyloidosis is very similar to multiple myeloma, in that chemotherapy is given followed by an autologous stem cell treatment and there has been a significant improvement in survival rates in recent years. When it became clear that it was AL amyloidosis that had been causing these symptoms, Dr Liam Smyth took over his care in St Vincent’s Private Hospital. Yet Thomas Peter was quite frail by then. “By the time he was referred to SVUH he was in full renal failure,” Karina says. “He had lost 15 per cent of his body weight and the amyloid deposits were so many that when they did start treatment, he never even got through one full cycle because his body wasn’t able for it.”

While there were hopes that Thomas Peter would go into remission, the amyloid deposits had caused too much damage to his organs and he sadly died in July 2021. Yet the McCarthy family decided to ensure that something positive would come from their father’s untimely passing. A cycle was organised to coincide with the first anniversary of his death, from their home in Caragh, Co Kildare to Thomas’s birthplace in Avoca, Co. Wicklow. The accompanying GoFundMe page raised a staggering €10,000, which the family are now donating to Multiple Myeloma Ireland. The funds will go towards raising awareness and Multiple Myeloma Ireland recently devoted a podcast episode to the condition. It will also help fund research into amyloidosis, including the AFFIRM-AL trial, which is ongoing.

As a rare disease, amyloidosis suffers from a lack of awareness but it does affect a number of people in Ireland every year. Karina believes that enhanced awareness is needed among the general public, as well as health professionals, although she acknowledges that diagnosis is particularly tricky as there is no typical amyloidosis patient.

“It is so difficult because it is something that you could have just one symptom or ten of them, it is so hard to know, then it only gets diagnosed at an advanced stage. With my dad, it was no one’s fault – he was being looked after and investigated for all sorts of things but just that one box wasn’t ticked.”

Amyloidosis has been in the headlines recently after Aslan frontman Christy Dignam died having suffered with the disease for a decade. Now the McCarthy family wants to play their part in getting the word out.

“We just want to raise awareness in any way we can and get everyone talking about it,” says Karina. “Heightened awareness of the symptoms might make people think that’s what they could have and early diagnosis would make such a difference to the outcome for someone.”