Rare Disease Report

Acromegaly - Rare Disease Quick Facts

JUNE 25, 2013
rarediseasereport

What is acromegaly?

  • Acromegaly is a rare endocrine disorder due too much growth hormone (GH) is produced by the pituitary. In most cases, the excess GH comes from benign adenomas on the pituitary.
  • Acromegaly is most often diagnosed in middle-aged adults, although symptoms can appear at any age. When GH-producing tumors occur in childhood, it is referred to as gigantism rather than acromegaly.
  • The adenomas vary greatly in size and rates of GH production. Some adenomas grow slowly and symptoms may not be noticed for many years. Other adenomas grow more rapidly and invade surrounding brain areas or the venous sinuses. Younger patients tend to have more aggressive tumors.
  • Most pituitary tumors develop spontaneously and are not genetically inherited.
  • A conservative estimate of the prevalence of acromegaly is 60 out of every million people. However, itt is believed that many persons with acromegaly go undiagnosed. The non profit acromegaly.org estimated the prevalence at over 4000 per million people but most other organizations have the prevalence much lower and it is currently considered a rare disease.

Symptoms

  • Soft tissue thickening of the palms of the hands and soles of the feet
  •  Enlargement of hands (ring size), feet (shoe size) and head (hat size)
  • Enlargement of forehead (frontal bossing) and jaw (prognathism) with pronounced under- or overbite, spreading teeth, and enlarging tongue
  • Carpal tunnel syndrome
  • Arthritis
  • Oily skin and excessive sweating
  • Tiredness, fatigue, depression
  • Impotence, loss of libido
  • Interrupted menstrual cycle (amenorrhea)
  • Lactation (galactorrhea)
  • Heart disease and heart enlargement (cardiomegaly and left ventricular hypertrophy)
  • Hypertension
  • Diabetes mellitus
  • Sleep apnea
  • Loss of vision
  • Headaches
  • Colon polyps and colon cancer

Diagnosis

  • Blood tests
    • GH (basal and following a glucose tolerance test)
    • IGH-1
  • MRI or CT scan

Treatment

  • Surgery
    • Surgery is the most common treatment used since it is often a rapid and effective treatment.
    • Success depends in large part on the skill and experience of the surgeon, as well as the location of the tumor.
    • People with acromegaly must be monitored for years for recurrence. More commonly, hormone levels improve, but do not return to normal. Additional medical therapy may be required.
  • Medicine
    • Used if surgery does not result in a cure and may be used to shrink large tumors before surgery.
    • Somatostatin analogs
      • Several studies have shown that somatostatin analogs are safe and effective for long-term treatment and in treating patients with acromegaly caused by nonpituitary tumors.
    • GH receptor antagonists (GHRAs).
      • They normalize IGF-I levels in more than 90% of patients. They do not lower GH levels. Given once a day through injection, GHRAs are usually well-tolerated by patients.
    • Dopamine agonists
      • These drugs are not as effective as the other medications. Dopamine agonists can be used in combination with SSAs.
  • Radiation Therapy
    • Radiation therapy is usually reserved for people who have some tumor remaining after surgery and do not respond to medications.
    • All forms of radiation therapy cause a gradual decline in production of other pituitary hormones over time, resulting in the need for hormone replacement in most patients

 

600px-Acromegaly_treatment_diagram.jpg

 

Drugs Approved for Acromegaly

  • Octreitide (Sandostatin Lar), a somatostatin analog
  • Lanreotide (Somatutine), a somatostatin analog
  • Pegvisomant (Somavert), a GH receptor antagonist
  • Bromocriptine (Parlodel), a dopamine agonist

Drugs with Orphan Designation (but not approved) for Acromegaly

  • Octreotide – oral  (Octreolin)
  • Octreotide acetate subcutaneous implant
  • Pasireotide
  • Vapreotide (Sanvar)

For More Information

National Endocrine and Metabolic Diseases Information Services
http://endocrine.niddk.nih.gov/pubs/acro/acro.aspx
Pituitary Network Association
https://www.pituitary.org/intro.aspx
http://www.acromegaly.org/en/


Figure obtained from the open source journal, Orphanet Journal of Rare Diseases,
Chanson P, Salenave S, Acromegaly. Orphanet J Rare Dis. 2008;3:17. doi:10.1186/1750-1172-3-17



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