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rare diseases

Acromegaly

Acromegaly disease –considerable disease burden

Acromegaly is a rare, slowly progressive, chronic and serious condition typically caused by a tumor of the pituitary gland and overproduction of growth hormone. This results in excess growth of bones and tissue and a range of other symptoms and, if untreated, premature death. People with acromegaly have a significant disease burden with high impact on their general health and quality of life.1-4

Disease overview

Significant physical and psychological impact 

Acromegaly is usually caused by excess growth hormone secretion from a benign pituitary tumor that places a considerable burden on the patient, both physically and psychologically.

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

Acromegaly symptoms

Clinical characteristics of acromegaly include gradual changes in appearance, such as enlarged hands, feet, and altered facial features. Other physical problems include abnormal enlargement of internal organs, for example the heart. Symptoms include headaches, joint pain, and sleep problems. Metabolic disorders are also present in many patients.

In addition to the 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. If untreated, acromegaly can be life-threatening and linked to shortened life expectancy.1-4

Early acromegaly diagnosis is key

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.6 An early diagnosis can lead to improvements in quality of life and reduced medical costs.7

Current acromegaly management  

Most people with acromegaly have surgery to remove the pituitary tumor. Medication or radiotherapy may sometimes be needed following, or instead of, surgery.

References

  1. Fleseriu M., et al. Lancet Diabetes Endocrinol. 2022;10(11):804-826.
  2. Webb SM, et al. Neuroendocrinology. 2016;103(1):106-111.
  3. Strasburger CJ, et al. Eur J Endocrinol. 2016;174(3):355-62.
  4. Geer EB, et al. BMC Endocr Disord. 2020;20(1):117.
  5. Crisafulli, S., et al. Eur J Endocrinol. 2021 Jul 1;185(2):251-263.
  6. Lavrentaki, A., et al. EPituitary. 2017; 20:4-9.
  7. Elbaum M., et al. Endokrynol Pol. 2019;70(1):74-85. 

  • 60
    cases

    per million people in estimated prevalence5

  • 5-6
    years

    median delay from the time that symptoms first appear to diagnosis1

Symptoms

  • Enlarged hands or feet
  • Altered facial features
  • Joint pains
  • Muscle weakness and fatigue
  • Paresthesia (tingling or numbness in limbs)
  • Anxiety and depression
  • Headache
  • Soft tissue swellings
  • Excessive sweating
  • Sleep apnea

Diagnosis

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. In patients with symptoms of acromegaly, diagnosis includes the measurement of growth hormone levels and insulin growth factor 1 (IGF-1), and magnetic resonance imaging (MRI) to detect a tumor in the pituitary gland.

Management

Surgery and/or medical treatment. Radiotherapy may be considered when both surgery and medical therapy fail.