As part of our “Acromegaly Disease Awareness Spotlight” we were honoured to speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology at the Institute of Metabolism and Systems Research in the University of Birmingham, and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT).
For surgery, the problem lies when the acromegaly causing tumour is large and is in proximity to structures that the surgeon cannot risk damage to without severe consequences. This means the surgeon cannot achieve full removal of the tumour giving patients the best chance of disease remission.
The co-ordination of care in patients with acromegaly is vital for optimal outcomes and starts as soon as the diagnosis of this condition is established.
A number of specialties need to be involved (endocrinology, pituitary surgery, oncology, neuroradiology, neuroophthalmology, gastroenterology, respiratory medicine, to name a few). It is important to have a very clear protocol and management pathway that outline which systems and comorbidities need to be monitored and how often. Usually the endocrinologist would oversee and orchestrate this. It is also important that specialists with experience on the condition should be assigned to the patient and patients need to be seen in centres with appropriate expertise. In the UK we are lucky, because there is a good network of pituitary centres dealing with acromegaly.”
It would be good if there were more treatments on the horizon that would have better efficacy, minimum side effects and were more cost effective for payers
Unfortunately, not all treatments are effective for every patient, some are very costly, and none can reverse completely all the comorbidities or physical changes that occur after the development of acromegaly.”
''Mental health is an element we haven’t looked at systematically as clinicians. We have focussed to date on physical comorbidities and survival, but the question of quality of life and mental health have not attracted the attention it should do.
Studies with validated questionnaires looking at quality of life which include not just physical but also mental health and social, emotional and well-being aspects, show that patients with acromegaly are behind compared with controls from the general population. This is an area that needs more investigation.
“I liked a lot of things in medical school and even when I graduated, I enjoyed a number of specialities, so it was difficult to choose. However, the reason I chose endocrinology is because it is like mathematics.
Over the years I realised it is a beautiful specialty because you can be a true physician, looking at the patient as a whole, and at the same time, a real expert. It is an area in which you can see a true positive change in your patients, not in all cases, but in the majority anyway, and I really like this feeling of being obviously useful.
As for pituitary, it was really a series of events. I ended up doing a Masters on Neuroendocrinology at the Imperial College of London as I had a one-year gap. Without really knowing much about it, I thought it sounded quite fancy and that was how it started.
“Acromegaly is a rare disease and because of this, the focus of healthcare systems and research is not as prevalent as with other more common conditions. I completely understand the need to meet the demands of, and the consequences of not supporting clinical practice and research in common conditions, but on the other hand, every human being, each patient’s life is valuable, no matter how common or not their disease is.
Society as a whole needs to show that it is inclusive and more focus on rare diseases and the people affected by them is one way to achieve this.''
For Support and to find out more about acromegaly from our Digital Disease Spotlight campaign you can read and listen to Dan Jeffries story to find out how he was inspired to create something positive from his diagnosis. Kara LaFrance tells us how not giving up is the only option when it comes to her personal battle with acromegaly. We also speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT) to gain her insights and perspective of the rare condition.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
Rare Revolution Editor