Acromegaly

Acromegaly is a rare endocrine disorder caused by excess levels of growth hormone in the body. In most cases, the high growth hormone concentrations are the result of a benign tumor in the pituitary gland. In rare cases, acromegaly may be due to excess secretion of  growth hormone releasing hormone (GHRH) by the hypothalamus or from neuroendocrine tumors found in other organs. Early symptoms include abnormal enlargement in bones of the hands, arms, feet, legs, and head. In most cases, the change in appearance is gradual making it difficult to diagnose quickly.

Roberto Salvatori, MD From Johns Hopkins Provides an Overview of Acromegaly

The most striking initial features are the enlargement of the jaw and forehead. As the disease progresses, continued changes in bone structure as well as overgrowth of soft tissue and cartilage can impact multiple aspects of the body, including malocclusion, osteoarthritis, arthralgia, myalgia, kyphoscoliosis, carpal tunnel syndrome,  hirsutism, hepatomegaly, splenomegaly, type 2 diabettes, hyperhidrosis, and cardiovascular problems. Acromegaly usually begins in the fourth and fifth decade of life but can occur anytime after puberty. This is in contrast to another rare disorder, gigantism, that begins before puberty. The disease is treated by surgery, medications and/or radiation therapy, depending on the individual. If surgery is an option, usually if the tumors are small and easy to remove, growth hormone concentrations will often return to normal levels but some symptoms may persists.

Adriana Ioachimescu, MD: Specific Symptoms of Acromegaly

There are also two types of medications approved for treatment:

• Somatostatin analogues (octreotide, lanreotide pasireotide)
• Growth hormone receptor antagonists (pegvisomant)

Sometimes, dopamine agonists are used off-label but these medications appear to be effective in only a small proportion of patients. Radiation therapy may accompany surgical or pharmaceutical therapy. It does require daily dosing over a 4-6 week period and the results may not be observable for some time.

In addition, to the above therapies, more medications are in development and clinicians should search https://clinicaltrials.gov to learn more about any clinical trials that may be of interest to their patients.

Lisa Nachtigall MD: The Importance of Making an Early Diagnosis

Susan Samson, MD, PhD: Current Treatment Options for Acromegaly

Patient Support Groups

• Acromegaly Community

• Pituitary Network Association

References

• US Department of Health and Human Services, Genetic and Rare Disease Information Center: Acromegaly. https://rarediseases.info.nih.gov/diseases/5725/acromegaly
• Bennett JC, Plum F., eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1211-12.
• Wilson JD, Foster DW. Textbook of Endocrinology. 8th ed. Philadelphia, PA: W. B. Saunders Co; 1992:268-290.
• Melmed S. Acromegaly. In Melmed, S ed. The Pituitary, 4th Edition. San Diego: Academic Press; 2017:423-465.
• Mercado, M., Espinosa, E. & Ramirez, C. Current status and future directions of pharmacological therapy for acromegaly. Minerva Endocrinol. 2016; 41:351-365.
• Katznelson, L. et al. Acromegaly: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2014;99;3933-3951.
• Gadelha MR, Frohman LA. Pathogenesis of familial acromegaly. Front Horm Res. 2010;38:121-126.
• Higham CE, Thomas JD, Bidlingmaier M, Drake WM, Trainer PJ. Successful use of weekly pegvisomant administration in patients with acromegaly. Eur J Endocrinol. 2009;161:21-25.
• Melmed S, Colao A, Barkan A, et al. Guidelines for acromegaly management: an update. J Clin Endocrinol Metab. 2009;94:1509-1517.
• Melmed S. Medical progress: Acromegaly. N Engl J Med. 2006;355(24):2558-73.