Patient case: Acromegaly
History of Presenting Illness:
A 35-year-old male presents with complaints of increasing shoe size, hand swelling, and changes in facial appearance over the last few years. He mentions that he has been feeling fatigued and experiences excessive sweating, particularly at night. He notes that his shoe size has increased by two sizes, and his hands have become noticeably larger, making it difficult to grip tools at work. Recently, he has developed joint pain, particularly in his fingers and knees, which seems to worsen over time.
He denies any changes in weight or appetite, but his partner has noted that his facial features appear more prominent, with a larger jaw and enlarged nose. The patient also reports mild headaches and occasional blurred vision. His family history is unremarkable for any similar conditions.
Physical Examination:
Height: 6'7" (previous height was 6'2" 5 years ago)
Weight: 210 lbs
Vital Signs: Blood pressure: 130/85 mmHg, Heart rate: 88 bpm, Temperature: 98.4°F
General Appearance: The patient appears in no acute distress, but his face has a noticeably enlarged jaw (prognathism) and enlarged hands with thickened skin.
Hands: Enlarged fingers with a broad, spade-like appearance. The skin is thickened.
Facial Features: Increased size of the jaw, broad nose, and enlarged lips.
Other Findings: No signs of acanthosis nigricans or other systemic manifestations. Neurological exam unremarkable, although the patient complains of mild headache.
Investigations:
Blood Tests:
Elevated growth hormone (GH) levels.
Elevated insulin-like growth factor-1 (IGF-1).
Normal thyroid and adrenal function tests.
Imaging:
MRI of the brain shows a pituitary adenoma, likely a somatotroph adenoma.
Diagnosis:
The patient is diagnosed with acromegaly, most likely due to a pituitary adenoma causing excessive growth hormone secretion. This condition is characterized by the gradual enlargement of bones and tissues, particularly in the hands, feet, and facial features.
Management Plan:
The patient is referred for endocrine evaluation and neurosurgical consultation to discuss potential treatment options, including medical therapy (e.g., somatostatin analogs) or surgical removal of the pituitary adenoma.
A) Hypothyroidism
B) Pituitary adenoma
C) Genetic mutation
D) Chronic kidney disease
A) Increased TSH levels
B) Elevated insulin-like growth factor-1 (IGF-1) levels
C) Decreased cortisol levels
D) Low growth hormone levels
A) Chest X-ray
B) CT scan of the abdomen
C) MRI of the brain
D) Ultrasound of the neck
A) Blood pressure control
B) Surgical removal of the pituitary adenoma
C) Chemotherapy
D) Hormone replacement therapy
Answers
1. B) Pituitary adenoma
2. B) Elevated insulin-like growth factor-1 (IGF-1) levels
3. C) MRI of the brain
4. B) Surgical removal of the pituitary adenoma
