A 45-year-old man comes to the office due to slowly progressive back and joint pain. In particular, his knee and ankle joints are stiff and painful when he walks. Over the past year, the patient has also experienced excessive sweating, and his ring and shoe sizes have increased. He has no prior medical issues and takes no medications. The patient does not use tobacco, alcohol, or illicit drugs. There is no significant family history. Physical examination shows coarse facial features with a prominent forehead, protruding jaw, and widely separated maxillary teeth. There is mild swelling and crepitus of the knees and ankles bilaterally. Which of the following is most likely to be associated with this patient's condition?

Question

A 45-year-old man comes to the office due to slowly progressive back and joint pain.  In particular, his knee and ankle joints are stiff and painful when he walks.  Over the past year, the patient has also experienced excessive sweating, and his ring and shoe sizes have increased.  He has no prior medical issues and takes no medications.  The patient does not use tobacco, alcohol, or illicit drugs.  There is no significant family history.  Physical examination shows coarse facial features with a prominent forehead, protruding jaw, and widely separated maxillary teeth.  There is mild swelling and crepitus of the knees and ankles bilaterally.  Which of the following is most likely to be associated with this patient's condition?

Quizplus · Accepted Answer

11ec160b_3909_886a_9249_490042123d3d_MD0001_00 This patient has bony overgrowth (ie, frontal bossing; enlarged jaw, hands, and feet) consistent with acromegaly. Acromegaly is caused by excessive production of growth hormone (GH) and is most often due to a pituitary somatotroph adenoma. Excess GH both directly and indirectly (via release of insulin-like growth factor 1 from the liver) leads to overgrowth of many tissues, including bone, cartilage, and visceral organs. In the heart, chronic GH elevation stimulates cardiac growth, causing left ventricular hypertrophy, diastolic dysfunction, and possible heart failure. The joints are also frequently involved in acromegaly, as excessive GH causes hyperplasia of articular chondrocytes and synovial hypertrophy, leading to wear and degeneration of articular cartilage and periarticular bone (hypertrophic arthropathy). Soft tissue involvement is also common and manifests as macroglossia, deepening of the voice (due to laryngeal soft tissue growth), carpal tunnel syndrome, and peripheral neuropathy. (Choices A and D) Marfan syndrome is an inherited condition caused by a defect in fibrillin-1. Cardiovascular complications include cystic medial degeneration of the aorta (with aneurysmal dilation and dissection), aortic regurgitation, and mitral valve prolapse. However, unlike the bony enlargement in acromegaly, the typical marfanoid habitus is characterized by a tall, slender build and an increased ratio of limb length-to-height. (Choice B) Ehlers-Danlos syndrome is due to an autosomal recessive defect in lysyl hydroxylase, which leads to defects in connective tissues (eg, fragile, hyperextensible skin). Musculoskeletal manifestations include hypermobile joints, pectus excavatum, and scoliosis. Valvular heart disease is common and can present as bicuspid aortic valve or mitral/tricuspid valve prolapse. (Choice E) Patients with untreated hypothyroidism can have a pericardial effusion, and also frequently have nonpitting edema (myxedema) due to excessive deposition of mucopolysaccharides and adipogenesis in the dermis and subcutaneous tissues. However, bony enlargement is not characteristic. Educational objective: Acromegaly is caused by excessive production of growth hormone, usually due to a pituitary somatotroph adenoma. Musculoskeletal manifestations include bony hypertrophy (eg, frontal bossing; enlarged jaw, hands, and feet) and osteoarthritis. Left ventricular hypertrophy is often common in acromegaly and may progress to heart failure. __________ References: GH and the cardiovascular system: an update on a topic at heart. (http://www.ncbi.nlm.nih.gov/pubmed/24972804)

A 45-Year-Old Man Comes to the Office Due to Slowly