Acromegaly

History Taking

Chief Complaint

• Patient reports of gradually increasing size of hands, feet, and facial features over the past few years.

History of Presenting Complaint

• Noticeable increase in ring and shoe size.

• Difficulty fitting into gloves or shoes that used to fit.

• Altered facial features such as enlarged nose, thickened lips, and broadened jaw.

• Complaints of snoring and interrupted sleep, suggesting sleep apnea.

• Vision disturbances and headaches, indicating possible pituitary adenoma.

• Joint pain and stiffness due to soft tissue swelling.

System Review

• Symptoms of fatigue and weakness.

• In females, changes in menstrual cycle; in males, decreased libido, suggesting possible hormonal imbalance.

• Signs of co-morbid conditions such as hypertension and diabetes (increased thirst, frequent urination).

• Dental issues such as widening gaps between teeth.

• Change in bowel habit is important which is related to increased risk of CA colon

Past Medical History

• History of pituitary adenoma or other endocrine disorders if present.

Past Surgical History

• Any previous surgery related to endocrine disorders if performed.

Drug History

• Use of hormone-related drugs or treatments if any.

• Medication for any secondary conditions such as diabetes or hypertension.

Family History

• Any pattern of pituitary tumors or other endocrine disorders in the family.

Social History

• Any changes in job or social activities due to physical changes or joint pain.

• Impact on personal relationships due to altered appearance and/or reduced libido.

OBG History

• In females, any changes in menstrual cycle or fertility issues.

Driving

• Stop driving if vision is affected.

Physical Examination

General Examination

• Increased overall size, particularly in the hands, arms, and facial features.

• Thick, rough skin, with increased skin creases on palms.

• Large, spade-like hands with wide fingers.

• Broadened wrists.

• Enlarged facial features such as nose, lips, and jaw.

• Prognathism (protruding jaw).

• Widening of gaps between teeth and malocclusion.

• Macroglossia (enlarged tongue) with deep furrows.

Cardiac Examination

• Possible evidence of hypertension (increased blood pressure) due to systemic effects of growth hormone.

• Possible presence of cardiomegaly, detected by a displaced apex beat and a possible third heart sound, indicating cardiac enlargement secondary to acromegaly.

Respiratory Examination

• Signs of sleep apnea, such as obesity and increased neck circumference.

• Possible presence of stridor, due to growth hormone effects on the larynx and upper airways.

Abdominal Examination

• Organomegaly (Hepatomegaly and splenomegaly) due to growth hormone

Neurological Examination

• Visual field testing to check for bitemporal hemianopia due to pressure on the optic chiasm from pituitary adenoma.

Additional Examinations

• Joint examination revealing enlarged and painful joints, possible limited range of motion due to arthropathy associated with acromegaly.

• To assess Carpal tunnel syndrome if there is symptoms

• Examination for skin tags, acanthosis nigricans and seborrheic keratoses, which are commonly associated with acromegaly.

• Possible signs of co-existing conditions such as diabetes mellitus and thyroid disorders.

• Proximal muscle weakness (Proximal myopathy)

Investigations

Laboratory Tests

• Serum IGF-1 (Insulin-like Growth Factor 1) levels: Elevated in acromegaly, as it is produced in response to growth hormone. It's useful in diagnosis as it remains constant throughout the day.

• Growth hormone levels: They may be elevated but are not reliable due to pulsatile secretion.

• Oral glucose tolerance test: In healthy individuals, growth hormone levels should suppress with glucose intake. Lack of suppression in this test is indicative of acromegaly.

• Full blood count, renal function, and liver function tests: Baseline tests, can also indicate associated conditions or complications.

Imaging

• MRI brain: Gold standard to visualize pituitary adenoma, which is the most common cause of acromegaly.

• X-ray of hands and feet: Can show characteristic changes like enlarged terminal tufts of the fingers.

Invasive

• Transsphenoidal biopsy: If MRI shows a pituitary adenoma, a biopsy can confirm the diagnosis and differentiate it from other types of tumors.

Other tests

• Echocardiogram: To assess cardiac function and detect cardiomyopathy, a common complication in acromegaly.

• Sleep study: To investigate for sleep apnea, common in acromegaly due to soft tissue swelling.

• Visual field testing: To assess for bitemporal hemianopia secondary to a pituitary adenoma pressing on the optic chiasm.

• Colonoscopy: Patients with acromegaly have an increased risk of colon polyps and cancer, thus screening is often recommended.

• Old photos if possible

Management

General Management

• Patient education: Explain the condition, complications, and management plan.

• Multidisciplinary approach: Involve endocrinologists, neurosurgeons, cardiologists, and ophthalmologists as necessary.

• Regular follow-ups: Monitor disease progression and management effectiveness.

Medical Management

• Somatostatin analogues (e.g., octreotide, lanreotide): Reduce growth hormone and IGF-1 levels.

• Dopamine agonists (e.g., cabergoline): Can lower growth hormone levels in some patients.

• Growth hormone receptor antagonists (e.g., pegvisomant): Block the effect of growth hormone at the receptor level.

Surgical Management

• Transsphenoidal surgery: First-line treatment if there's a pituitary adenoma causing the condition.

• Debulking surgery: If complete removal of tumor is not possible, partial removal can help alleviate symptoms.

Other

• Radiation therapy: Considered if medical and surgical treatments fail or are not suitable.

• Physiotherapy: Help manage joint pains and mobility issues.

• CPAP machine: For managing sleep apnea symptoms.

• Regular screening: Colonoscopy for colon cancer, echocardiography for cardiac assessment, eye examinations for visual field defects.

Signs and symptoms indicating disease severity

• Sweating

• Headache

• Skin tags

• Visual field defect