Patrick Lewis, PharmD, Senior Director, Medical Affairs at Amryt Pharma provides an overview of acromegaly and why diagnostic delays for this rare disease are so common.

 

 

Acromegaly is a rare endocrine disorder caused by excess levels of growth hormone (GH) in the body. In many cases, a benign tumor on the pituitary gland causes this excess of GH. This can signal the liver to overproduce insulin-like growth factor 1 (IGF1).

Common symptoms include:

  • subtle skeletal overgrowth
  • soft tissue swelling (tongue, heart, kidney, colon, and vocal cords)
  • unusually prominent forehead and heavy brow ridge
  • protruding lower jaw
  • overbite
  • skin thickening
  • increased shoe and ring size
  • hypertension
  • increased perspiration
  • headaches
  • paresthesia
  • and sexual dysfunction

 

As noted by Dr. Lewis, the insidious nature at which acromegaly symptoms develop means there is an average diagnostic delay of several years.   

There are currently four orphan drugs approved to treat acromegaly. They either stimulate somatostatin receptors (octreotide, octreotide-oral, pasireotide) or inhibit GH receptors (pegvisomant). 

At ENDO 2023, new data was presented that can help predict treatment response to oral octreotide. 

To learn more about acromegaly, visit our learning center at checkrare.com/acromegaly/