Dr Niki Karavitaki talks to RARE Revolution Magazine for Acromegaly Digital Disease Spotlight

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). 

Dr Niki Karavitaki

​“Acromegaly is a challenging condition which starts right at the beginning with a diagnostic delay from start of symptoms to when it is formally diagnosed and can be appropriately treated. The clinical manifestations of acromegaly can develop for many years before it is realised that they are attributed to this condition and not to something else like aging, which is a common misdiagnosis. We do have appropriate tests, so once acromegaly is suspected it can be easily confirmed, however, delays in diagnosis translate to long term comorbidities which may not be reversible.

​A further challenge is the management of disease. We do have some options in our armamentarium, surgery is one and is the main protagonist, plus radiotherapy and medical treatments which we can use alone or in combination. However, these are not always successful in achieving ‘remission’ as soon as possible. ​

​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. 

​Lack of surgical expertise is also a problem, unless there is a tertiary pituitary centre where patients can be referred. This gives the best chance of one or two surgeons being able to become experts in performing successful surgeries for patients with acromegaly and is something we actively try to support.

After non-successful surgical treatment, gaining control of the disease is more challenging. The patient then needs to follow a more complex treatment pathway which includes medications and, in some cases, radiotherapy. Acromegaly is a life-long disease which means a long and involved medical journey for patients.''

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​​​Even after apparent successful tumour removal and remission we know that patients do not return to full health. Several co-morbidities may continue to be present and debilitating, including arthropathy, cardiovascular or metabolic complications.  Quality of life is also an issue, even when patients are medically OK in the eyes of the doctors with satisfactory hormonal tests, in reality they are not OK

​​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. 

​Patients with acromegaly have a lot to deal with, this is a condition that they will need to manage for the rest of their lives. They need to follow a medical pathway with various hospital visits and treatments. Co-morbidities that cannot be reversed, such as arthropathy mean that patients learn to live with often a great deal of daily pain. 

​Acromegaly can also change the facial appearance. This occurs due to, soft tissue swelling and changes to the bones. The soft tissue swelling can go away after successful treatment, however, the bone changes do not go away, and these changes stay with the patient for the rest of their lives. This is an area where we can offer virtually nothing medically to reverse these changes and patients can experience problems with their body image, self-esteem, and confidence.

​The impact to other areas of their lives, such as daily activities, professional activities, days off work for hospital visits is also a burden. 

''​I am an academic clinician, so my job combines research and clinical care. This is a very challenging but the most rewarding combination for me. We are involved in research in Birmingham for pituitary conditions including acromegaly. We are looking at correlates between treatments and outcomes and are trying to find biomarkers of diagnostic and prognostic significance. 

We are also involved in external collaborative studies both nationally and internationally for the development of new treatments and clinical trials. We are trying to promote health through research and good clinical services.

​“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. 

​It is very logical with the hormones having  feedback mechanisms and the whole endocrine system working based on algorithms; it is so intelligent, wise, intellectually stimulating, fascinating and in many aspects still enigmatic.

​This is how I was attracted scientifically to endocrinology. 

​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. 

I have also been fortunate enough to work with people who inspired me such as John Wass, at Oxford, one of the greatest mentors you could hope to work with. ​As doors opened, I stepped through which led me to Birmingham to further develop the Pituitary Service and Pituitary research here.''

The joy I absorb when working in pituitary endocrinology is my main driver.

“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.''

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​​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.

Dan's Voice

Dan's Story

Kara LaFrance

Understanding Acromegaly

Support

Book Review