From the Guidelines
The earliest manifestations of acromegaly in adults are often subtle and may include coarsened facial features, acral enlargement, headache, visual field defects, and joint pain.
Common Signs and Symptoms
- Acral enlargement
- Headache
- Visual field defects
- Joint pain
- Coarsened facial features
- Prognathism
- Dental malocclusion
- Teeth separation
- Frontal bossing
- Sweating
- Kyphosis
- Insulin resistance
- Secondary diabetes mellitus
- Hypertension
- Sleep disturbance
- Sleep apnoea
- Carpal tunnel syndrome
- Galactorrhoea
- Pituitary apoplexy
- Left ventricular hypertrophy
- Diastolic dysfunction 1
Biochemical Investigations
Biochemical investigations, such as elevated serum IGF1 levels, can support the diagnosis of GH excess 1.
- Elevated serum IGF1 level in relation to the age-adjusted, sex-adjusted and Tanner stage-matched normal range
- Failure to suppress serum GH levels below 1 μg/l in response to an oral glucose load
Cardiac Involvement
Acromegaly can also lead to cardiac hypertrophy and a hyperkinetic syndrome, with increased cardiac output and reduced vascular resistance, resulting in a specific acromegalic cardiomyopathy characterized by biventricular concentric hypertrophy 1.
- Biventricular cardiac hypertrophy with increased contractility and systolic output
- Diastolic filling abnormalities at rest and impaired cardiac performance during exercise
- Impaired systolic and diastolic performance with low cardiac output and overt heart failure in late stages
From the Research
Earliest Manifestations of Acromegaly in Adults
The earliest manifestations of acromegaly in adults can be identified through various studies, including:
- Enlarged hands and feet, which can occur 6.4 ± 6.8 and 6.2 ± 6.9 years prior to diagnosis, respectively 2
- Hypertension, which can occur 6.6 ± 7.5 years prior to diagnosis 2
- Carpal/cubital tunnel syndrome, which can occur 5.7 ± 6.7 years prior to diagnosis 2
- Broadened extremities (hands and feet), widened thickened and stubby fingers, and thickened soft tissue 3
- Characteristic facial features, including a widened and thickened nose, prominent cheekbones, forehead bulges, thick lips, and marked facial lines 3, 4
- Excessive growth of hands and feet (predominantly due to soft tissue swelling) 4
- Acral changes, alterations in facial features, and oral symptoms, which can be present for more than 10 years before diagnosis 5
Clinical Features at Diagnosis
At diagnosis, acromegaly patients often present with a range of clinical features, including:
- Morphologic manifestations (83.7-87.9% of patients) 2
- Snoring syndrome (81.4% of patients) 2
- Asthenia (79.2% of patients) 2
- Rheumatologic, cardiovascular, respiratory, and metabolic consequences 3, 4, 6
- Systemic comorbidities or local tumor effects 4
Importance of Early Diagnosis
Early diagnosis of acromegaly is crucial to prevent serious complications and improve patient outcomes, as:
- Delayed diagnosis can result in a two- or four-fold increase in mortality and a decrease in life expectancy by about 10 years 6
- The duration of the disease before effective therapy may be a major predictor of increased mortality mainly due to complications 6
- Increased awareness among healthcare practitioners can reduce delays in time-to-diagnosis and enable earlier treatment 5