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Acromegaly

Orpha number ORPHA963
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance
  • Sporadic
Age of onset Adulthood
ICD-10
  • E22.0
OMIM
UMLS
  • C0001206
MeSH
  • D000172
MedDRA
  • 10000599
SNOMED CT
  • 74107003

Summary

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

The prevalence in Europe is estimated at 1/250,000 -1/100,000 It is most often diagnosed in middle-aged adults (average age 40 years, men and women equally affected).

Due to insidious onset and slow progression, acromegaly is often diagnosed four to more than ten years after its onset. The main clinical features are broadened extremities (hands and feet), widened thickened and stubby fingers, and thickened soft tissue. The facial aspect is characteristic and includes a widened and thickened nose, prominent cheekbones, forehead bulges, thick lips and marked facial lines. The forehead and overlying skin is thickened, sometimes leading to frontal bossing. There is a tendency towards mandibular overgrowth with prognathism, maxillary widening, tooth separation and jaw malocclusion. The disease also has rheumatologic, cardiovascular, respiratory and metabolic consequences which determine its prognosis.

In the majority of cases, acromegaly is related to a pituitary adenoma, either purely GH-secreting (60%) or mixed. In very rare cases, acromegaly is due to ectopic secretion of growth hormone-releasing hormone (GHRH) responsible for pituitary hyperplasia. The gene aryl hydrocarbon receptor interacting protein AIP (11q13.3) has been identified as major susceptibility factor.

The clinical diagnosis is confirmed biochemically by an increased serum GH concentration following an oral glucose tolerance test (OGTT) and by detection of increased levels of insulin-like growth factor-I (IGF-I). Assessment of tumor volume and extension is based on imaging studies. Echocardiography and sleep apnea testing are used to determine the clinical impact of acromegaly.

Treatment is aimed at correcting (or preventing) tumor compression by excising the disease-causing lesion, and at reducing GH and IGF-I levels to normal values. Transsphenoidal surgery is often the first-line treatment. When surgery fails to correct GH/IGF-I hypersecretion, medical treatment with dopamine agonists and/or somatostatin analogs is proposed. The GH antagonist (pegvisomant) is used in patients that are resistant to somatostatin analogs. Radiotherapy may be discussed as third line treatment in case of medical treatment failure.

Adequate hormonal disease control is achieved in most cases, allowing a life expectancy similar to that of the general population. However, even if patients are cured or well-controlled, sequelae (joint pain, deformities and altered quality of life) often remain.

Expert reviewer(s)

  • Pr Philippe CHANSON
  • Dr Sylvie SALENAVE

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Detailed information

Summary information
Review article
  • EN (2008)
Article for general public
  • FR (2007,pdf)
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