rare diseases
Acromegaly
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Acromegaly disease –considerable disease burden
Acromegaly is a rare hormonal disorder that develops when the body produces too much growth hormone (GH), usually due to a benign tumor in the pituitary gland called an adenoma.1 This causes excess growth of bones and tissue over time that can lead to serious health complications and, if left untreated, premature death.1,2 People with acromegaly have a significant disease burden with high impact on their general health and quality of life.2,3
Disease overview
What is acromegaly?
Acromegaly occurs when the pituitary gland (a small organ at the base of the brain) produces too much growth hormone (GH).1 In adults, this excess GH triggers the liver to make insulin-like growth factor 1 (IGF-1), which stimulates abnormal growth in bones and soft tissues.1
Unlike gigantism, which affects children before their growth plates close, acromegaly develops in adulthood and causes changes in appearance and overall health.1 The condition often progresses slowly, which can delay diagnosis for years.1, 4
The prevalence of acromegaly is estimated at about 60 cases per million people, with an incidence of approximately four cases per million people and year, with a similar prevalence in men and women.5
Disease symptoms typically develop gradually over time, and it often takes several years from the time that symptoms first appear to diagnosis (average time 5–6 years1), when patients typically are in their 40s.4
Key facts
- Most cases are caused by a noncancerous pituitary tumor
- Rarely, tumors in other parts of the body can produce GH or IGF-1
- Early detection can prevent complications such as heart disease, diabetes, and arthritis
What are the symptoms of acromegaly?
Clinical characteristics of acromegaly include gradual changes in appearance, such as enlarged hands, feet, and altered facial features.1 Internal organs such as the heart may become abnormally enlarged.2 Other symptoms include headaches, joint pain, and sleep problems.1 People with acromegaly may also experience metabolic disorders.2
Beyond physical impact, psychological symptoms can occur, such as changes in personality and self-esteem, distortion of body image, relationship problems, social withdrawal and anxiety or depression.3 If untreated, acromegaly can be life-threatening and linked to shortened life expectancy.2
Acromegaly symptoms often start slowly and may be difficult to detect.1 Many begin to notice only when commonly worn rings or shoes no longer fit.1 Because these changes happen gradually, they may be mistaken for normal aging.
Symptoms vary between individuals, but common signs include:
Physical changes
- Enlarged hands and feet (rings or shoes no longer fit)
- Facial changes: enlarged jaw, nose, lips, or brow
- Thickened skin
- Soft tissue swellings
General health effects
- Joint pain and stiffness
- Fatigue and muscle weakness
- Excessive sweating
- Paresthesia (tingling or numbness in limbs)
- Headache
- Sleep apnea
- Anxiety and depression
How is acromegaly diagnosed?
Diagnosis is usually made by an endocrinologist or a pituitary specialist (neuroendocrinologist), although referral may be made by doctors from a range of medical specialties.1
In patients with symptoms of acromegaly, diagnosis typically includes the following:
- Medical history and physical exam - A doctor reviews symptoms and looks for physical changes.1
- Blood tests - Measuring IGF-1 levels is the most reliable initial test. Elevated IGF-1 suggests excess GH activity.1, 7
- Oral glucose tolerance test (OGTT) - In healthy adults, GH levels drop after drinking glucose; in acromegaly, they remain high.1, 7
- Imaging scans - MRI of the brain can detect pituitary tumors.1
How is acromegaly treated?
Most people with acromegaly have surgery to remove the pituitary tumor.1, 6 Medication or radiotherapy may sometimes be needed following, or instead of, surgery.1
The goals of treatment are to reduce excess GH, relieve pressure that the growing tumor may be exerting, preserve normal pituitary function and improve symptoms of acromegaly.1
Typical treatments include:
- Surgery – Transsphenoidal surgery removes the pituitary tumor. This is often the first-line treatment.1
- Medication – Drugs such as somatostatin analogs (e.g., octreotide, lanreotide), dopamine agonists, or GH receptor antagonists can lower GH or block its effects.1
- Radiation therapy – Used when surgery and medication are insufficient.1
With proper treatment, many patients see improvement in symptoms and normalization of hormone levels.2, 6 Untreated acromegaly can lead to a range of debilitating complications, including cardiovascular, metabolic, and musculoskeletal issues.2
References
- Fleseriu M, Langlois F, Lim DST, Varlamov EV, Melmed S. Acromegaly: pathogenesis, diagnosis, and management. Lancet Diabetes Endocrinol. 2022;10(11):804-826.
- Colao A, Grasso LFS, Giustina A, Melmed S, Chanson P, Pereira AM. Acromegaly. Nat Rev Dis Primers. 2019;5(1):20.
- Webb SM, Badia X, Surinach NL; Spanish Acromegaly Quality of Life Study Group. Validity and clinical applicability of the Acromegaly Quality of Life Questionnaire (AcroQoL): a 6-year follow-up study. Neuroendocrinology. 2016;103(2):106-111.
- Lavrentaki A, Paluzzi A, Wass JAH, Karavitaki N. Epidemiology of acromegaly: review of population studies. Pituitary. 2017;20(1):4-9.
- Crisafulli S, Luxi N, Sultana J, et al. Global epidemiology of acromegaly: a systematic review and meta-analysis. Eur J Endocrinol. 2021;185(2):251-263.
- Melmed S, di Filippo L, Giustina A, et al. Consensus on acromegaly therapeutic outcomes: an update. Nat Rev Endocrinol. 2025.
- Giustina A, Biller BMK, Casanueva FF, et al. Consensus on criteria for acromegaly diagnosis and remission. Pituitary. 2024.
Acromegaly FAQs
Is acromegaly genetic?
Most cases are not inherited. Rarely, it can be part of genetic syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1).1,2
Can acromegaly be cured?
Surgery can cure some patients, especially if the tumor is small and completely removed. Others may need ongoing medication or radiation.1
How rare is acromegaly?
It’s estimated to affect 60 people per million worldwide.5
What happens if acromegaly is not treated?
Untreated acromegaly can lead to serious complications, including heart disease, type 2 diabetes, sleep apnea, and arthritis.2
At what age is acromegaly usually diagnosed?
Most people diagnosed with acromegaly are 40–60 years old.4
Does acromegaly increase the risk of other health problems?
Yes. Risks include high blood pressure, diabetes, dyslipidemia, sleep apnea, cardiomyopathy/valve disease, colon polyps/cancer, thyroid nodules, and osteoarthritis.2