Acromegaly: Patient Burden, Invisible Symptoms, and Diagnostic Challenges

Acromegaly is a chronic multisystem disorder in which growth hormone and insulin-like growth factor 1 excess cause progressive somatic, metabolic, psychological, and functional morbidity. Although biochemical control improves outcomes, many patients continue to experience persistent symptoms, impaired health-related quality of life (HRQoL), and substantial treatment burden.

Fatigue, musculoskeletal pain, arthropathy, sleep disturbance, and body-image concerns are highly prevalent and frequently persist despite biochemical remission. HRQoL remains impaired in physical, psychological, and social domains, with depression and anxiety affecting a substantial proportion of patients. Treatment-related factors, including injection burden, breakthrough symptoms, gastrointestinal effects, and financial and surveillance demands further reduce well-being and productivity.

From a patient perspective, joint pain can feel like accelerated aging, stiffness, swelling, and deep aching, especially in the knees, hips, and hands. It can limit mobility and make simple activities feel exhausting and painful. Getting treated for acromegaly is the most important starting point in managing joint pain. Some joint changes may be reversible if IGF-1 levels are lowered early in the course of the disease, but if changes become permanent, steroid or gel injections may be considered. In severe cases, joint replacement might be needed.

Fatigue in acromegaly is described as severe exhaustion, weakness, and trouble thinking that does not go away even after plenty of rest or sleep. It can be caused by inflammation, depression, disrupted sleep, blood vessel damage, and weakened muscles. A sleep study is recommended for almost all patients once their IGF-1 levels are controlled. Physical therapy, cognitive behavioral therapy, and mindfulness practices may help.

Persistent headaches can result from the pituitary tumor pressing against nerves in the brain, inflammation after surgical treatment, stretching of the outer layer of the brain, increased intracranial pressure, or painful neck joints. High GH levels themselves may also cause headaches. Management of the tumor will ease headaches, and acetaminophen may provide temporary relief.

Sexual dysfunction is common but often overlooked, as patients may not feel they have the time or energy to seek help. Treatment options are available, including hormone replacement with testosterone in men and estrogen or progesterone in women when symptoms are related to low hormone levels.

Brain fog and mental health challenges, including difficulty concentrating and memory lapses, can have a real impact on daily life. These may be related to brain structure changes, high growth hormone levels, decreased fluid around the brain and spinal cord, and disruptions in brain-cell messaging pathways. Continued relationship with the endocrinologist and healthcare team is recommended.

PRO tools, including the Acromegaly Quality of Life Questionnaire, Patient-Assessed Acromegaly Symptom Questionnaire, Acromegaly Treatment Satisfaction Questionnaire, and the Acromegaly Symptom Diary, reveal discordance between biochemical control and PROs, highlighting the need for standardized PRO assessment and validated minimal important difference thresholds.

In sub-Saharan Africa, epidemiological data on acromegaly remain fragmented, and the condition is probably underdiagnosed due to the inaccessibility of MRI, hormone assays, and limited awareness among healthcare professionals. The global prevalence is estimated between 40 and 125 cases per million inhabitants, with an annual incidence of 3 to 5 new cases per million. The most common clinical manifestations include pituitary tumor syndrome in 60%–80% of patients, acromegalic features (85%–95%), arterial hypertension (35%–50%), diabetes mellitus (25%–40%), and arthropathy (60%–70%).

Two case reports from Senegal illustrate the challenges. A 65-year-old female teacher with confirmed acromegaly could not receive a single dose of octreotide due to its unavailability in Senegal and its prohibitive cost (480,000 CFA francs/month, approximately $800 USD). A 51-year-old male patient with a history of somatotroph adenoma resection and a pituitary macroadenoma also could not access somatostatin analogs due to financial barriers; he died 4 months after presentation, likely due to cardiac complications.

New oral therapies and long-acting formulations may reduce treatment burden, but comparative PRO data are limited. Despite therapeutic advances, acromegaly remains associated with considerable symptom burden and impaired HRQoL. Patient-centered care requires systematic PRO incorporation, multidisciplinary management of comorbidities, attention to treatment burden, and shared decision-making.