Be Aware, Be Early

My name is Dianne Sauve and I was diagnosed with acromegaly in 2012. After eight years dealing with this disease and talking with many patients, I consider myself one of the lucky acromegaly patients. Unlike many others, I did not have to spend years feeling my body and quality of life deteriorating while being unable to find a resolution to multiple health problems. My diagnosis came on the heels of being diagnosed by my family physician as having type 2 diabetes. Always concerned and proactive with my healthcare, I made a point of seeing my family physician annually for blood work and a discussion on my general health. I was fortunate that this led me to a very fast diagnosis of acromegaly.

After the diabetes confirmation, I accepted my doctor’s offer to be referred to an endocrinologist who would help me with the diabetes. I would be educated on what was happening in my body and how I could control the disease. Following a discussion with the endocrinologist, I asked a few simple questions about diabetes that triggered her to further question me. My feet had grown and I was having difficulty losing weight even though I was exercising. With a keen eye, she looked at me and decided to order further blood work. It was that bloodwork that revealed a high IGF-1 level and further investigation confirmed acromegaly. I am thankful that my endocrinologist listened to my concerns and was open to further tests to determine what could be the cause. Had she not, I may have seen my body deteriorate over the next eight years without knowing what was happening. Quality of life for me would have been very different than it is today.

Early diagnosis and knowledge of acromegaly are two reasons why I decided to become an advocate for this disease. Like most people, I had never heard of acromegaly when I was diagnosed, but I took the time to learn and then realized that the simple act of having a blood test changed the course of my life. I wanted to connect with other patients and also raise awareness so that others would not have to suffer for years before being diagnosed. After all, I was one of the lucky ones.

Knowledge of acromegaly and its symptoms can empower the individual to initiate discussion with their physician about the disease. This in turn could lead to exploring whether acromegaly is the root of an individual’s health problems.

My message to the general public is to learn what acromegaly is, how it can affect your body, and what symptoms it presents. Early diagnosis is key to disease control as well as quality and longevity of life for the patient. See your family physician on a regular basis, ask questions if you need answers, be informed, and join a support group if you are diagnosed. You are not alone!

A Description of Acromegaly by Patients

Acromegaly is a disease that results from excessive secretion of growth hormone (GH) from the pituitary gland, usually caused by an adenoma (an excessive growth of normal cells, usually non-cancerous in nature).

In a child or adolescent, excessive GH is called pituitary gigantism. For adults, excess GH will stimulate the growth of bone, cartilage, organs and skin; patients will not, however, become taller.

MANIFESTATIONS OF THE DISEASE

Key things to remember about the manifestation of the disease:

  • GH can impact each patient differently.
  • Each individual can present with different symptoms and there is not one symptom that impacts all patients.
  • A single patient with several symptoms represents only a small portion of those diagnosed with acromegaly.
  • Family doctors often only identify the disease when they notice several symptoms associated with acromegaly.
  • With the manifestation of only a few symptoms, doctors often treat the symptom(s) and the possibility of acromegaly is not investigated. This leads to further disease progression without detection, and patients often suffer for years before a diagnosis is made. The damage to the body is irreversible.
  • Based on discussion between ourselves, there are five broad sets of symptoms:

1. Morphological changes

The most noticeable characteristics of GH are:

  • swollen and/or larger hands and feet, which result in increasing shoe and glove size and the need to enlarge rings;
  • facial modifications, such as enlargement of the frontal bone (brow), the nose, the jaw (the teeth become spread apart), and the tongue; and
  • enlargement of the soft tissues of the pharynx and larynx that lead to snoring, and sometimes, obstructive sleep apnea.

2. Metabolic complications

The main metabolic complications are related to the production of the sexual hormones by the pituitary gland. Women might notice the absence of menstruation, vaginal dryness, and excess hair growth. Men might notice a severely reduced libido.  

Other “metabolic” symptoms are thyroid nodules, excessive sweating, skin tags, carpal tunnel syndrome, and hypertension.

3. Symptoms related to the size of the tumour mass

Sometimes, the size of the tumour attached to the pituitary gland will fill the cavity where the pituitary gland sits and will compress the optic nerve which leads to vision problems. The increased size of the tumour could also compress the pituitary gland and impact the production of several hormones. It could also lead to constant headaches (by compressing the brain).

4. Symptoms associated with a comorbidity

A number of symptoms will have a very significant and irreversible impacts on the quality of life for the person down the road. Among them are:

  • The heart will continue to grow, leading to the possibility of different defects such as shortness of breath and heart failure.
  • Cartilage between joints will enlarge and will eventually cause arthropathy of the knees, ankles, hips, and spine. Back problems might also occur.
  • A number of patients become insulin resistant and will eventually have difficulty controlling their glucose.
  • If the excess of growth hormone is not controlled over time, there is an increased risk of colon polys and colon cancer. In three studies with colon cancer data, the frequency of cancer was increased more than fourfold in acromegaly patients.

5. Fatigue and weight gain

A cluster of symptoms described above could lead to chronic fatigue and weight gain.

THE ROAD TO TREATMENT

Unfortunately, awareness of the disease is lacking among the general population. As such, those who are developing the disease do not really know what is happening, or they mistake some symptoms with general aging issues. They are generally able to identify typical, but often isolated, signs of acromegaly long before a doctor is able to pinpoint the disease and many fail to mention these symptoms during visits to the doctor. Because many symptoms also appear in the general population, and the fact that acromegaly is a rare disease, family doctors are more likely to refer patients to a specialist to deal with the isolated symptoms as opposed to an endocrinologist. The endocrinologist, through a clinical interview and blood work, will determine if the patient has pituitary disease and is able to provide treatment options.

Treatments are not as effective when disease has progressed untreated for several years. Way too many of us have a significant lower quality of life. This can manifest as reduced self-esteem, chronic comorbidities, chronic pain, chronic fatigue, depression, and impaired relationships with family and others.

Acromegaly is a serious disease that needs to be diagnosed early and treated in a timely manner. Awareness and knowledge are key to quality and longevity of life for patients.

REFERENCE

For more information about the patients’ perspective on acromegaly, please read this paper.

Acro-Connect Meet-Ups Offering Community, Support, and Advice

A rare disease can be isolating. It’s difficult to find others to talk to who truly understand the shock of diagnosis, the lack of awareness, the impact of symptoms, and the confusion over treatment.

Having a trustworthy group of individuals who can not only sympathize, but provide guidance, back up fears, answer questions, and validate experiences with a “I thought it was just me!” can make a world of difference. It offers those with rare diseases a sense of belonging and confidence. From the newly diagnosed to those who’ve experienced years managing the disease, it can lead to valuable insights or further questions to raise with medical professionals.

It’s with this sense of fostering community that the Acromegaly Ottawa Awareness and Support Network launched Acro-Connect. This series of guided discussions is becoming a lifeline for acromegaly patients not only in the Ottawa area but even further afield.

Held virtually for the time being to keep members safe from COVID, the sessions focus on a theme. A member of the Acromegaly Ottawa group or a professional related to the topic leads the group through a series of open questions, allowing everyone a chance to share their experiences and thoughts. It’s a warm, welcoming, and much needed way to feel understood and learn from others sharing the same journey.

The next session will be on mindfulness on September 1, 2020, at 7:30pm Eastern Time. Email acromegalyottawa@gmail.com for details and a link to join the group.

Future sessions are planned for the coming months—contact Acromegaly Ottawa for more information or follow the Facebook page for updates.