Epidemiology

Acromegaly most commonly presents between the ages of 40 and 45 years, but the diagnosis is typically delayed for 7 to 10 years after the onset of symptoms.
Incidence
3 cases per million persons per year
Prevalence
60 to 480 cases per million persons

Etiology and Pathophysiology

• >90% of patients with acromegaly have a benign GH-secreting, or somatotroph, adenoma of the anterior pituitary.
• Excess secretion of GH stimulates the liver to secrete insulin-like growth factor 1 (IGF-1), which causes most of the condition’s clinical features.
• The remaining 10% have ectopic GH secretion, most commonly from pancreatic islet cell tumors or lymphomas, or hypersecretion of growth hormone–releasing hormone (GHRH), most commonly from hypothalamic gangliocytomas or peripheral neuroendocrine tumors such as carcinoid, islet cell tumors, small cell lung cancer, adrenal adenomata, medullary thyroid cancer, or pheochromocytoma (1).

Genetics

• A majority may have a loss of expression of growth arrest and DNA-damage-inducible (GADD) 45 gamma peptide.
• 40% may have an activating mutation of the α-subunit of the guanine nucleotide stimulatory protein gene.
• In those undergoing genetic analysis, 4.4% found to have an overexpression mutation in GP101, an X-linked G protein–coupled receptor.
• Familial syndromes that include acromegaly as a feature, such as Carney syndrome, McCune-Albright syndrome, familial acromegaly, and multiple endocrine neoplasia type 1 (MEN1) are rare.

General Prevention

There are currently no preventive strategies for this condition.

Commonly Associated Conditions

• Cardiovascular
  • Hypertension
  • Cardiomyopathy
  • Arrhythmias
• GI
  • Colon polyps/cancer
• Neurologic
  • Sleep apnea, both central and obstructive
  • Narcolepsy
  • Carpal tunnel syndrome
• Endocrine
  • Insulin resistance/impaired glucose tolerance/impaired fasting glucose/diabetes mellitus
  • Hypertriglyceridemia
  • Infertility
  • Visceromegaly
  • Thyroid disease/cancer