jUly 30, 2020

Dr. Catherine Elizabeth Connolly

My father has been living with Cold Agglutinin Disease for the last 4 years – a rare condition that leads to the breakdown of red blood cells when he’s exposed to cold weather. In this blog series, I explore his disease from the personal side and the professional side, as his daughter and as a qualified medical doctor. Through telling our story, piece-by-piece, I hope to raise awareness, share knowledge, and build friendships within the CAD community.

Part 1: Going Purple

My Dad’s diagnosis of CAD was a long drawn out process rather than a definitive moment in time. We don’t know exactly when it started, but we gradually observed how his nose and ears became noticeably purple whenever the weather was cold. He had already put up with Raynaud’s phenomenon (fingers appear white due to decreased blood flow when cold) since he was young and my Mum was forever telling him to put a coat on, or gloves, or a hat. She still does! Dad lives and works in a rural town in Australia. He’s been described by some as a ‘workaholic’, but he’s always been full of energy and likes to keep busy and keep fit. One of his habits was to go for an early morning ocean swim, which he always loved. Our nearest neighbour across the sea is Antarctica, so the water can be very cold in the winter – colder even than the Irish Sea where Dad used to swim while he was growing up.

After one fairly brisk swim, with the wind blowing strongly, Dad emerged from the sea looking a peculiar colour of blotchy purple and yellow. His nose, ears and fingertips were a dusky purple hue. It turned out that he had noticed this before and thought he had some weird rash, but then the purple hue began to reappear more frequently. On most Friday nights at field hockey during the winter, his purple nose would be such a deep colour that other parents huddled on the sidelines would comment on it. None of us realised that this heralded the start of Dad’s CAD – we just thought he was cold and needed to put his beanie on. This purple hue is known as acrocyanosis, and in Dad’s case it was apparent for several years before we arrived at a diagnosis of CAD. 

Now that we know he’s got CAD, his purple nose is a serious sign that his red blood cells are clumping together and he needs to cover up and get warm quick. It’s very difficult to manage because although he has made an effort to put on extra clothes these days, he doesn’t always feel cold and he can’t tell when he’s turning purple. He likes being out in the garden and going for runs, and long walks, but all of these activities put him at serious risk during the winter months, as the cold temperatures settle on any bit of exposed skin. Even the air he breathes can prove too cold and affect his lungs. It’s hard to live with because even mild temperatures mean he has to go out dressed in a balaclava, gloves and a jacket when most people wear light clothing and T-shirts. For Dad, giving up swimming, ParkRun in the winter, and long walks when it’s chilly has been hard to deal with mentally and physically.

In this blog, I hope to address various aspects and symptoms of Cold Agglutinin Disease through the experiences of my Dad. Because of my medical background, I will include a short explanation of the symptoms I’ve described at the end of each post. Part 2 explores how Dad’s busy life full-of-energy has had to reduce as he comes to terms with another major symptom of this disease – fatigue. 

Medical Spotlight: Acrocyanosis

Acrocyanosis, colloquially referred to as “going purple” amongst the CAD community, is a common complaint for patients. However, this symptom is not exclusive to CAD and it may occur with other medical conditions too. It is usually painless and affects the extremities, such as the ears, nose, hands, and feet. While the exact mechanism of acrocyanosis is not entirely understood, in CAD it is closely linked with the cold agglutination of red blood cells, which occurs in tiny blood vessels in the peripheries of the body. As blood circulates to the peripheral areas of the body it’s exposed to colder temperatures. This slows down the movement of red blood cells and permits the binding of the CAD antibody to them. One CAD antibody usually binds to many red blood cells at a time, leading to a clumping effect. This, combined with antibody-induced damage to red blood cells, can decrease the amount of oxygen delivered to peripheral tissues and result in a purple or blue discolouration.