Signs and Symptoms of Acromegaly
Acromegaly presents with a wide range of clinical manifestations including characteristic somatic disfigurement, systemic manifestations, and metabolic dysfunction, all resulting from excess growth hormone (GH) and insulin-like growth factor I (IGF-I) levels. 1, 2
Characteristic Physical Features
Facial changes: Coarsening of facial features, including furrowing of forehead, pronounced brow protrusion, enlargement of nose and ears, thickening of lips, deepening of skin wrinkles and nasolabial folds, and mandibular prognathism leading to dental malocclusion and increased interdental spacing 3
Acral enlargement: Excessive growth of hands and feet, predominantly due to soft tissue swelling, present in the vast majority of patients 3
Soft tissue swelling: Progressive enlargement of soft tissues throughout the body 4
Ring size changes: Increased finger circumference requiring larger ring sizes, a measurable indicator of disease progression 4
Systemic Manifestations
Cardiovascular Complications
- Heart failure is the most common cause of death in untreated acromegaly 5, 6
- Valvular heart disease is a specific complication 6
- Left ventricular hypertrophy may occur and can improve with treatment 6
Respiratory Manifestations
- Snoring syndrome affects approximately 81% of patients at diagnosis 7
- Sleep apnea is common due to soft tissue changes in the upper airway 3
Musculoskeletal Symptoms
- Arthralgia (joint pain) is a common symptom that significantly impacts quality of life 4, 3
- Carpal/cubital tunnel syndrome can appear early, approximately 5.7 years before diagnosis 7
Neurological Symptoms
- Headache is a frequent complaint 4
- Visual field defects may occur if the pituitary tumor compresses the optic chiasm 8
Metabolic and Endocrine Abnormalities
- Perspiration (hyperhidrosis) is commonly reported 4
- Fatigue and asthenia affect approximately 79% of patients at diagnosis 4, 7
- Hypertension can appear early, approximately 6.6 years before diagnosis 7
Disease Recognition Patterns
Diagnosis is often delayed 5-10+ years after disease onset due to insidious progression 3
Earliest manifestations prior to diagnosis typically include:
Less than 15% of patients actively seek medical attention for changes in appearance or extremity enlargement 3
Endocrinologists (29.5%) and other clinical specialists (37.2%) are commonly the first to suspect acromegaly 7
Clinical Implications
- Elevated GH and IGF-I levels are predictors of mortality in acromegaly patients 1, 5
- Normalizing GH and IGF-I levels through treatment results in mortality rates similar to the general population 1, 5
- Regular colonoscopic screening is recommended starting at age 40 due to increased risk of colorectal neoplasia 6, 9
Sex Differences
- Specific manifestations may present differently between males and females 7
- Awareness of these differences can aid in earlier recognition of the disease
Diagnostic Pitfalls
- High rates of discrepancy exist between patient-reported and physician-reported manifestations, particularly for functional signs 7
- Physicians should actively inquire about functional symptoms and obtain the patient's perspective during evaluation 7
- Biochemical confirmation is essential through elevated IGF-I levels and failure to suppress GH during an oral glucose tolerance test 5