Management of Pseudoacromegaly
Pseudoacromegaly requires no specific medical treatment targeting growth hormone or IGF-1, as these hormone levels are normal by definition—management focuses on identifying and treating the underlying genetic or acquired condition causing the acromegaloid features. 1
Key Diagnostic Distinction
Pseudoacromegaly is fundamentally different from true acromegaly in that patients present with acromegaloid physical features but have normal GH and IGF-1 levels. 1, 2 This critical distinction means that all the medical therapies used for acromegaly (somatostatin receptor ligands, pegvisomant, dopamine agonists) are inappropriate and ineffective for pseudoacromegaly. 3, 4
Management Approach
Primary Management Strategy
- Establish the underlying diagnosis through collaboration with clinical geneticists, as most pseudoacromegaly conditions have a genetic origin. 1
- Rule out true acromegaly by confirming normal GH and IGF-1 levels before concluding the diagnosis is pseudoacromegaly. 1, 2
Specific Underlying Conditions to Consider
The management depends entirely on identifying which condition is causing the acromegaloid appearance:
- Pachydermoperiostosis: Supportive care for skin and joint manifestations 1
- Sotos syndrome: Developmental and educational support 1
- Weaver syndrome: Management of associated developmental delays and skeletal abnormalities 1
- Cantú syndrome: Cardiovascular monitoring and management of hypertrichosis 1
- Acromegaloid facial appearance (AFA) syndrome: No specific treatment required; primarily a cosmetic concern with normal GH/IGF-1 levels 2
Clinical Monitoring
- No endocrine monitoring is required for GH or IGF-1 levels once pseudoacromegaly is confirmed, as these remain normal. 1, 2
- Genetic counseling should be offered given the hereditary nature of many pseudoacromegaly conditions. 1
- Symptomatic management of specific features (e.g., hypertrichosis, coarse facies) may be pursued based on patient preference. 2
Critical Pitfall to Avoid
The most important pitfall is misdiagnosing true acromegaly as pseudoacromegaly or vice versa. Always confirm normal GH and IGF-1 levels with appropriate assays before excluding acromegaly, as elevated GH and IGF-I are predictors of mortality in true acromegaly. 3, 5 Conversely, do not initiate acromegaly-specific therapies (somatostatin analogs, pegvisomant) in patients with confirmed pseudoacromegaly, as these medications target pathways that are not dysregulated in these conditions. 3, 4