Acromegaly – Causes, Symptoms and Treatment
Acromegaly is a rare hormonal disorder caused by excess growth hormone production, leading to characteristic enlargement of the hands, feet, and facial features.
Things worth knowing about "Acromegaly"
Acromegaly is a rare hormonal disorder caused by excess growth hormone production, leading to characteristic enlargement of the hands, feet, and facial features.
What is Acromegaly?
Acromegaly is a rare, chronic metabolic disorder caused by the excessive production of growth hormone (GH). The name derives from the Greek words akron (extremity) and megas (large). The condition primarily affects adults and leads to abnormal growth of the extremities -- the hands, feet, and face. Since skeletal growth is already complete in adults, the disorder does not increase overall height but instead causes a coarsening and widening of bones and soft tissues.
Causes
In approximately 95% of cases, acromegaly is caused by a benign tumor of the pituitary gland called a pituitary adenoma. This tumor produces uncontrolled amounts of growth hormone. GH stimulates the liver to produce IGF-1 (Insulin-like Growth Factor 1), which in turn drives excessive tissue growth.
- Pituitary adenoma: most common cause (approximately 95% of cases)
- Ectopic GH secretion: rare; tumors outside the pituitary gland (e.g., in the lungs or pancreas) produce GH or GHRH (Growth Hormone-Releasing Hormone)
- Hypothalamic tumors: very rare; excessive GHRH production overstimulates the pituitary gland
Symptoms
Symptoms develop gradually over many years and are therefore often diagnosed late. Typical signs and symptoms include:
- Enlargement of hands and feet (rings and shoes no longer fit)
- Coarsening of facial features: enlarged nose, protruding forehead and brow ridges, enlarged lips and tongue
- Enlargement of the lower jaw (prognathism) with increasing gaps between teeth
- Excessive sweating, oily skin, and body odor
- Joint and bone pain
- Fatigue and lack of energy
- Headaches
- Visual disturbances (due to pressure of the tumor on the optic nerve)
- Sleep apnea (breathing interruptions during sleep)
- Increased risk of high blood pressure, type 2 diabetes, and heart disease
Diagnosis
The diagnosis of acromegaly is based on clinical examination, laboratory tests, and imaging:
- IGF-1 blood level: an elevated IGF-1 level is the most important screening parameter
- Oral glucose tolerance test (OGTT): in healthy individuals, glucose suppresses GH secretion; in acromegaly, this suppression does not occur
- MRI of the pituitary gland: to detect and measure the pituitary adenoma
- Ophthalmological examination: visual field testing when compression of the optic nerve is suspected
Treatment
The goal of treatment is to normalize GH and IGF-1 levels, remove the tumor, and prevent long-term complications.
Surgery
Transsphenoidal surgery (accessing the pituitary gland through the nasal cavity) is the preferred first-line treatment. In cases of small tumors (microadenomas), complete cure can often be achieved.
Medical Therapy
- Somatostatin analogues (e.g., octreotide, lanreotide): inhibit GH secretion and are used before or after surgery
- Dopamine agonists (e.g., cabergoline): can reduce GH production, but are generally less effective
- GH receptor antagonists (e.g., pegvisomant): block the action of GH at its target organs
Radiation Therapy
Radiation therapy (conventional or as radiosurgery/Gamma Knife) is used when surgery and medical therapy are insufficient. The effect is delayed and may cause hypopituitarism (underactivity of the pituitary gland).
Prognosis
With early diagnosis and successful treatment, a good quality of life can be achieved. Left untreated, acromegaly significantly increases the risk of severe cardiovascular disease, diabetes, spinal changes, and colorectal polyps. Lifelong follow-up examinations are necessary.
References
- Melmed S. - Acromegaly Pathogenesis and Treatment. Journal of Clinical Investigation, 2009; 119(11): 3189-3202.
- Katznelson L. et al. - Acromegaly: An Endocrine Society Clinical Practice Guideline. Journal of Clinical Endocrinology and Metabolism, 2014; 99(11): 3933-3951.
- Giustina A. et al. - A Consensus on Criteria for Cure of Acromegaly. Journal of Clinical Endocrinology and Metabolism, 2010; 95(7): 3141-3148.
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