What is acromegaly?

For most peoplethe body regulates hormones just like it’s supposed to. Nature expertly executes a careful balance, producing growth hormone (GH) in just the right amount at just the right time. But, for any number of reasons, things don’t always go as intended.

Acromegaly develops when a benign tumor grows on the pituitary gland and secretes increased levels of growth hormone (GH) during adulthood. As you might imagine, it’s a very rare disorder with an incidence of 3,000 new cases per year. There are about 25,000 acromegaly patients in the United States, and while it can develop at any age it usually affects middle-aged adults.

I really wish the awareness was more... unfortunately a lot of patients don't get the support they need or deserve.

— Jill

Clinical manifestations of acromegaly can vary, but in general the disease is characterized by somatic overgrowth (often bones in the hands, feet, and face), physical changes, multiple comorbidities (two or more medical conditions in a patient), and even premature mortality. These may be due to the direct effect of GH and/or IGF-1 (Insulin-like Growth Factor-1) on various organs and systems. Local effect of the tumor itself usually causes hypopituitarism (when a normal pituitary gland does not secrete the proper amount of hormones), or can cause visual problems.

Pathophysiology


In normal pituitary function, Growth Hormone-Releasing Hormone (GHRH) stimulates the pituitary gland to secrete GH while the somatostatin hormone inhibits GH production. But in acromegaly, the micro- or macroadenoma is impervious to these regulatory instructions and secretes an increased level of GH. When the GH reaches the liver, it stimulates the liver to secrete increased levels of IGF-1. It is these increased IGF-1 levels that cause most of the metabolic dysfunction and somatic growth that present in acromegaly.

In a few people, acromegaly is caused by tumors in other parts of the body, such as the lungs or pancreas. Sometimes, these tumors secrete GH; in other cases they produce GHRH, which stimulates the pituitary to make more GH.2

Epidemiology


Prevalence

About 25,000 patients in the U.S.

Incidence rate

3,000 new cases per year

Median age at diagnosis

40.5 – 47 years

Acromegaly


The tumor that causes acromegaly is not only rare, but also very slow-growing, so physical changes occur over a period of several months, or even years. As a result, it can take a good while before patients notice anything is amiss, if they do at all. A common sign of acromegaly is enlarged hands and feet. Shoes that don’t fit anymore, tightening rings, or even more general symptoms like frequent headaches are chalked up to overwork, stress, or simply getting older. This puts the average time between the appearance of symptoms and diagnosis at 4.5 to 5 years. Other factors affecting proper, timely diagnosis include the patient’s geographical location and what type of healthcare practitioner he or she is seeing at the time.

A PATIENT’S VOICE

Before I was diagnosed, I saw probably ten doctors. I saw specialists and none of them caught it.

— Michelle

Recognize the signs and symptoms

The key is to familiarize yourself with the many different manifestations of acromegaly,  as seen in the Signs and Symptoms section. Not all patients exhibit recognizable somatic growth, and successful early detection hinges on not relying on this as an exclusive criterion.

Check GH and IGF-1 levels

Endocrine Society clinical practice guidelines suggest screening for acromegaly by measurement of IGF-I in patients with typical clinical manifestations, but also in those who lack the typical clinical picture and have several associated conditions: sleep apnea syndrome, type 2 diabetes mellitus, debilitating arthritis, carpal tunnel syndrome, hyperhidrosis, and hypertension.7

Order an imaging study

Pituitary MRI studies reveal that only 25% of acromegaly patients are found to have a microadenoma (tumor diameter ≤10 mm). The rest have a macroadenoma (tumor diameter > 10 mm).

A PATIENT’S VOICE

I lived with acromegaly for 21 years before I was diagnosed.

— Rick

Anyone with this disease knows how debilitating it can be. The effects on patients’ lives are myriad:

Pain: The monthly injections hurt.

Disruption: Taking time off work, getting to the hospital/clinic and back, sitting in the waiting room, etc. It’s a chunk of nonproductive time that must be endured every single month. The stress and inconvenience get very old, very quickly.

Isolation: Physical symptoms such as somatic changes, fatigue, and depression cause patients to shrink their lives to fit their disease. The emotional components of isolation also play a debilitating role in their lives.

Frustration: The rarity of their disease, the time spent barking up the wrong trees with the wrong specialists, the lack of feasible treatments that fit their desired lifestyle, feeling like they’re not being heard, and the fact it took so long to get diagnosed can cause patients to become frustrated, angry, and depressed. This affects their entire families and loved ones, their friendships, and their careers.

A PATIENT’S VOICE

For a lot of patients, the changes in their body…facial changes especially… create a sense of wanting to hide themselves or not be as social.

— John

Treatment goals begin with reducing mortality and increasing quality of life by:8

  • Reversing or reducing the severity/number of signs and symptoms
  • Managing other diseases or conditions the patient may also have
  • Restoring hormone levels to normal ranges with medical therapies
  • Controlling tumor mass
  • Maintaining optimum function of the pituitary gland

First and foremost, disease education is key. Because it is so rare, acromegaly is unfortunately often not detected or even suspected. Keeping it in mind as an option when patients present with symptoms will go a long way to getting them the treatment they need, sooner. Access to therapy is also critical, and there are different treatment options available, each with its own pros and cons.

A PATIENT’S VOICE

I went from a type A personality to a type Z, and honestly I lost some friends who just didn’t know how to deal with me anymore. I wasn’t always returning phone calls. I didn’t want to do a lot of the social things I did before the diagnosis.

— Traci

Crinetics is developing paltusotine for the treatment of acromegaly. It establishes a new class of oral, selective, nonpeptide, somatostatin receptor type 2 (SST2) agonists.

Paltusotine is a once-daily oral treatment with high bioavailability, and is the first agent in its class with reported clinical results. It is well-tolerated, with side effects similar to SSA therapies.

A PATIENT’S VOICE

My teeth were separating and it looked like I had a tooth missing. For years when I talked to anybody my mouth was closed; I didn’t smile. I wear a hat every time I go out because it did so much damage to my forehead and skull and I’m still self-conscious.

— Rick

Crinetics is intently focused on empowering acromegaly patients who are eager to be heard and who are seeking better treatment options, as well as all healthcare practitioners, to recognize the symptoms of acromegaly, diagnosis this rare disease, and implement the best course of treatment to control it.

We encourage you to establish connection with the following organizations to continue raising your awareness so that these vastly underserved patients can realize brighter futures. And, by all means, tell them Crinetics sent you.

Acromegaly Community

Pituitary World News

Pituitary Network Association

World Alliance of Pituitary Organizations (WAPO)

Acromegaly Patient Videos


Acromegaly-Awareness-Day-2020-Symptoms

The Final Word


Acromegaly is an insidious disease that urgently warrants greater awareness, and Crinetics is dedicated to making that happen. Your reading this web page is the first step in reaching our goal. If you’ve come this far, we appreciate you and we have a few final asks:

  • Keep acromegaly in your mental Rolodex of possible diagnoses.
  • Listen to patients who present with odd-sounding symptoms.
  • Be the one who diagnoses it because you knew.
  • Prescribe your patients the treatments that can help them feel better.
  • Spread the word about this disease’s signs and symptoms.
  • Connect with the pituitary/acromegaly community to keep on top of the latest treatments.

Let’s work together to bring these underserved patients Better therapies for Better lives.

Contact


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