Acromegaly is a
rare disease with prevalence of approximately 60 cases per million, slight female predominance and peak onset in adults in the fourth decade. Clinical diagnosis is often delayed by several years due to the slowly progressive onset of symptoms. There are multiple clinical criteria that define
acromegaly: dysmorphic syndrome of insidious onset, symptoms related to the
pituitary tumor (
headaches,
visual disorders), general signs (sweating,
carpal tunnel syndrome,
joint pain, etc.), complications of the disease (musculoskeletal, cardiovascular, pneumological, dental, metabolic comorbidities,
thyroid nodules,
colonic polyps, etc.) or sometimes clinical signs of associated
prolactin hypersecretion (
erectile dysfunction in men or cycle disorder in women) or concomitant mass-induced
hypopituitarism (
fatigue and other symptoms related to pituitary
hormone deficiencies). Biological confirmation is based initially on elevated
IGF-I and lack of GH suppression on oral
glucose tolerance test or an elevated mean GH on repeated measurements. In confirmed cases, imaging by pituitary MRI identifies the causal
tumor, to best determine management. In a minority of cases,
acromegaly can be linked to a
genetic predisposition, especially when it occurs at a young age or in a familial context. The first-line treatment is most often surgical removal of the somatotroph
pituitary tumor, either immediately or after transient medical treatment. Medical treatments are most often proposed in patients not controlled by surgical removal. Conformal or stereotactic
radiotherapy may be discussed on a case-by-case basis, especially in case of drug inefficacy or poor tolerance.
Acromegaly should be managed by a multidisciplinary team, preferably within an expert center such as a reference or skill center for rare
pituitary diseases.