rare diseases
Acromegaly
Considerable disease burden
Acromegaly is a rare disease most often caused by a tumor in the pituitary gland, which results in an overproduction of growth hormone. The increased level of hormone may lead to changes in visual appearance, and physiological and psychological problems. If untreated, acromegaly can be life threatening.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.
Clinical features of acromegaly may include gradual changes in appearance, such as enlarged hands, feet and altered facial features, and other physical problems such as enlargement of internal organs, headaches, visual field defects, joint pain, sleep disturbance and metabolic dysregulation. If left untreated, acromegaly can be life-limiting as serious complications arise including high blood pressure, diabetes, and cardiovascular disease.3,4
In addition to the physical impact, psychological symptoms may include alterations in personality and self-esteem, distortion of body image, disruption of relationships, social withdrawal and anxiety or depression.1,2
The prevalence of acromegaly is estimated to be around 60-80 cases per million, with an incidence rate of 3-11 cases per million per year.5,6
Early diagnosis is key
Due to the wide variety of symptoms which often develop gradually over several years, diagnosis can be challenging. Acromegaly is usually diagnosed when the patient is in their 40s, with men and women equally affected. The median delay to time of diagnosis is 4.5-5 years.7,8 An early diagnosis can lead to improvements in quality of life and reduced medical costs.
Current 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
- Melmed, S., et al. Causes and clinical manifestations of acromegaly, UpToDate, last updated May 2018, accessed Aug 2019
- Melmed, S., et al. Diagnosis of acromegaly, UpToDate, last updated Apr 2018, accessed Aug 2019
- AACE Acromegaly Guidelines, Endocr Pract. 17(4):11, 2011.
- Holdaway et al Pituitary 1999 Jun;2(1):29-41. doi: 10.1023/a:1009965803750
- Burton, T., et al. Incidence and prevalence of acromegaly in a large US health plan database. Pituitary. 19(3):262–7, 2016.
- Tjornstrand, A., et al. The incidence rate of pituitary adenomas in western Sweden for the period 2001–2011. Eur J Endocrinol. 171(4):519–26, 2014.
- Fleseriu, M., et al. A Pituitary Society update to acromegaly management guidelines. Pituitary. 24(1): 1–13, 2021.
- Lavrentaki, A. Epidemiology of acromegaly: review of population studies. Pituitary. Feb;20(1):4-9, 2017.
60-80
casesper million people in estimated prevalence5,6
4.5-5
yearsmedian delay at diagnosis7,8
Symptoms
- Enlarged hands and feet
- Altered facial features
- Joint problems
- Muscle weakness and fatigue
- Anxiety and depression
- Headaches
- Soft tissue swelling
- Excessive sweating
- Sleep apnea
- Loss of vision
Diagnosis
Diagnosis is usually done by an endocrinologist, typically a pituitary specialist (neuro-endocrinologist), even though referral may come from physicians from a range of medical specialties. Diagnosis often starts with laboratory assessment, such as the measuring of growth hormone level, with MRI scanning as a second step.
Management
Surgery and/or medical treatment, sometimes in combination with radiotherapy.
