Acromegaly: Causes, Symptoms, Diagnosis & Treatment Options
Acromegaly: Causes, Symptoms, Diagnosis & Treatment Options
What Is Acromegaly? Signs, Complications, and Treatment Options
Learn about acromegaly, a rare hormonal disorder caused by excess growth hormone. Understand symptoms, gigantism, causes, diagnosis, and the latest treatments like surgery, somatostatin analogs, pegvisomant, and radiosurgery.
What Is Acromegaly?
Acromegaly is a rare hormonal disorder caused by excess production of growth hormone (GH), most commonly due to a benign pituitary gland tumor (adenoma). When GH levels rise, the liver releases insulin-like growth factor-1 (IGF-1), which stimulates bone and soft tissue growth.
In adults, this leads to enlarged hands, feet, facial features, organs, and soft tissues—but not increased height (because growth plates are already fused).
The condition progresses slowly, often going unnoticed for years, leading to late diagnosis.
Acromegaly vs. Gigantism
| Feature | Gigantism | Acromegaly |
| Age of Onset | Childhood, before growth plate closure | Adulthood, after growth plate closure |
| Effect on Height | Dramatically increased height | Height remains the same |
| Growth Features | Long bone growth | Bone and soft tissue thickening |
Gigantism is simply excess GH before puberty, while acromegaly is excess GH after puberty.
Causes
The most common cause is:
- Pituitary adenoma (noncancerous tumor) producing excess GH
Less common causes: - Tumors in lungs, pancreas, adrenal glands secreting GH-RH or GH
- Genetic syndromes:
- X-Linked Acro-Gigantism (X-LAG) involving GPR101 gene
- AIP gene mutations
- MEN1, Carney Complex, McCune-Albright Syndrome
Signs and Symptoms
Common Physical Changes
- Enlarged hands and feet
- Widened jaw (prognathism) and enlarged facial bones
- Thickened lips, nose, tongue, and forehead ridges
- Increased spacing between teeth
Systemic Symptoms
- Deep, husky voice
- Excessive sweating and oily skin
- Severe snoring / sleep apnea
- Fatigue, joint pain, muscle weakness
- Headaches and vision problems (if tumor compresses optic nerves)
Internal Organ Involvement
- Enlargement of heart, liver, kidneys, thyroid, spleen
- Increased risk of:
- Heart disease
- Hypertension
- Diabetes
- Colon “polyps” and colon cancer
Diagnosis
- Blood Tests:
- Elevated IGF-1 (first screening test)
- GH suppression test after glucose intake (failure to suppress confirms diagnosis)
- MRI scan to detect pituitary tumor
- Eye exam for visual field loss
Treatment Options
| Treatment | Purpose | Notes |
| Transsphenoidal Pituitary Surgery (first-line) | Removes tumor | Best results for small, well-defined tumors |
| Somatostatin Analogs (Octreotide, Lanreotide)** | Reduce GH production & shrink tumor | Long-acting injections every 4 weeks |
| GH Receptor Blocker (Pegvisomant) | Blocks IGF-1 effects | Used when somatostatin analogs fail |
| Dopamine Agonists (Cabergoline) | Mild GH suppression | Helpful for small tumors or mild cases |
| Stereotactic Radiosurgery | Targeted radiation to tumor | Used if surgery is not curative |
Modern treatment often combines surgery + medical therapy for full GH normalization.
Complications (If Left Untreated)
- Heart enlargement → heart failure
- Severe sleep apnea
- Diabetes
- Hypertension
- Arthritis
- Colon cancer
- Shortened lifespan
Early diagnosis greatly improves outcomes.
Cancer Screening Recommendation
Patients with acromegaly over age 40 should undergo:
- Colonoscopy every 3–5 years
- Thyroid ultrasound if any thyroid enlargement is detected
Conclusion
Acromegaly is treatable. Modern surgery and targeted hormone therapies can normalize GH/IGF-1 levels, reduce symptoms, prevent organ damage, and significantly improve quality of life.
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