Acromegaly: Hiding in Plain Sight

Acromegaly, although rare, has classic and well-known symptoms. Notwithstanding these well-known signs, patients often seek diagnoses for several years after their first symptoms. Early diagnosis can prevent long-term comorbidity and premature death in patients with acromegaly

Acromegaly, although rare, has classic and well-known symptoms: disproportionate skeletal growth; soft tissue overgrowth; coarse facial features; metabolic, cardiovascular, and respiratory comorbidities; bone and joint disease; and sleep apnea. Notwithstanding these well-known signs, patients often seek diagnoses for several years after their first symptoms. Early diagnosis can prevent long-term comorbidity and premature death in patients with acromegaly.

A multinational team of researchers has published a study examining the diagnostic process, implementation of treatment, and changes in life situation in patients with acromegaly ahead-of -print in the journal Pituitary. Their focus was sex-specific differences.

They enrolled 165 acromegaly patients into this non-interventional patient-reported outcome study. Patients answered questions on their diagnostic process and healthcare utilization. The survey also addressed pre-diagnosis symptoms, number and specialty of physicians they consulted, time to diagnosis, and aftercare.

On average, patient sought diagnoses for almost 3 years and consulted 3.4 physicians before receiving an accurate diagnosis.

Women's diagnosis-seeking took longer than men's, with women waiting 4 years for a diagnosis and men finding answers in 1.6 years. This surprised the researchers, as today, MRI is widely available and they expected faster diagnosis. In fact, the exploratory period was longer than previously reported.

Women also consulted more physicians. They saw an average of 4 physicians, while men saw and average of 2.7.

Endocrinologists diagnosed the acromegaly in approximately half of patients, regardless of sex.

All enrolled patients had undergone surgery at least once, and they perceived surgery to be the best therapy for their acromegaly. Patients with sparsely granulated tumors tended to need more surgery.

Most patients had surgery within 5.5 years of symptom onset.

More than 27% of patients were forced to scale back on employment, and some reported that the acromegaly had contributed to their decision to retire early.

The researchers emphasize an urgent need to increase awareness of acromegaly's clinical manifestations and help clinicians diagnose it earlier. In particular, we need to raise our index of suspicion in women.