Acromegaly, or Pierre Marie’s disease as it is sometimes called (after the first doctor to accurately describe the symptoms), is a hormonal disorder characterized by abnormal bone growth, enlarged hands and feet, and thickened, enlarged face. Learn more about this rare endocrine disease, its diagnosis and the different treatment options available.
Sometimes confused with gigantism, acromegaly is a hormonal disorder that causes exaggerated bone and soft tissue growth. The characteristic symptoms of acromegaly are abnormally large hands and feet, and changes in facial features, caused by excessive secretion of growth hormone (GH) by the pituitary, a small gland in the brain. This growth hormone plays a key role in regulating growth in children and adolescents, and is also of major importance for adults. A benign tumor (pituitary adenoma) is behind the excess growth hormone secreted by the ptituitary gland.
Symptoms and impact on health
The symptoms associated with acromegaly are caused by the excess growth hormone, which produces exaggerated growth, or by the pituitary tumor itself. The many signs and symptoms appear very gradually and are often not apparent for several years.
Symptoms caused by excess growth hormone:
- Gradual changes to the face and extremities (hands and feet): shoe size increases and the person finds it difficult to take off rings. Greatly enlarged face, with thick nose and lips is a feature. The brows, cheekbones and chin protrude; the teeth space out and the voice becomes husky and deep.
- Enlarged internal organs: especially the liver (hepatomegaly), the thyroid (goitre) and heart (cardiomegaly, in 70 to 80% of sufferers), which can lead to shortness of breath (heart failure) and high blood pressure (in 35% of cases).
- Back pain (rachialgia) and joint pain (arthralgia) affect two-thirds of acromegaly patients and can be disabling, especially in the fingers (when it can become difficult to write, tie shoes and perform other everyday tasks).
- Bone deformation is another potential symptom, including abnormal curvature of the spine (scoliosis) or protuberance of the sternum.
- Onset of carpal tunnel syndrome is very common, with symptoms ranging from tingling and numbness in the hands to pain.
- Less acute hearing
- Snoring and sleep apnea are very common (in up to 60% of patients), often accompanied by daytime drowsiness that can exacerbate cardiac and respiratory problems over time.
- Diabetes mellitus is another potential complication.
- Pronounced fatigue is often present.
- Other consequences of excess growth hormone commonly found are:
- weight gain,
- coarsening and ageing of the skin,
- excessive perspiration,
- hair growth
- Small growths that form on the lining of the colon (polyps or colorectal adenomas) that in some cases may develop into colon cancer. A colonoscopy is recommended every three to five years..
Symptoms associated with pituitary tumors:
- Headaches (cephalalgia) caused by the size of the tumor are frequent (in 65% of cases).
- Sight problems caused by compression of the visual pathways (20% of cases).
- Reduced producton of some hormones.
Acromegaly has many consequences for patients and therefore has an impact on life expectancy. If it goes untreated or is diagnosed late (seven to 10 years after the symptoms first appear), the disease can shorten a patient’s life expectancy.
There are no known risk factors or preventive measures against acromegaly. It’s not possible to screen for the disease before the first symptoms appear. Acromegaly is not hereditary and is not transmitted to children.
Acromegaly is a rare disease with a prevalence of 40 to 70 cases per million population. Onset can be at any age and it is often diagnosed at around age 40. However, it is exceptional in the elderly. It is slighty more prevalent in women than in men.
3 to 4
New cases of acromegaly per year per million population.
Average age of diagnosis
Fédération d’endocrinologie du Pôle Est. Website: http://federation-endocrino-poleest.univ-lyon1.fr/webapp/website/website.html?id=3300926&pageId=220550
Philippe Chanson. Acromégalie. Presse Med. 2009, 38: 92-102. http://www.em-consulte.com/showarticlefile/197873/main.pdf