A 45-year-old woman comes to the physician with exertional shortness of breath and lower-extremity swelling over the last 6 weeks. She has no chest pain, dizziness, or orthopnea. She also suffers from chronic diarrhea that has not responded to dietary modifications. Colonoscopy with biopsies done 6 months ago was unremarkable. The patient has been taking herbal supplements for hot flashes that she describes as severe. She does not use tobacco or illicit drugs but does drink a few beers on weekends.
Her blood pressure is 142/80 mm Hg and pulse is 98/min. Her body mass index is 26 kg/m². Purplish, blanching telangiectasias are seen on her upper lip and nose. Jugular venous distention is present. A 3/6 holosystolic murmur is heard at the lower sternum that increases with inspiration. Lungs are clear to auscultation. The liver is enlarged and pulsatile. There is 2+ edema of both lower extremities. The remainder of the examination is within normal limits.
Laboratory results are as follows:

Which of the following is the most likely diagnosis?

Question

A 45-year-old woman comes to the physician with exertional shortness of breath and lower-extremity swelling over the last 6 weeks. She has no chest pain, dizziness, or orthopnea. She also suffers from chronic diarrhea that has not responded to dietary modifications. Colonoscopy with biopsies done 6 months ago was unremarkable. The patient has been taking herbal supplements for hot flashes that she describes as severe. She does not use tobacco or illicit drugs but does drink a few beers on weekends.
Her blood pressure is 142/80 mm Hg and pulse is 98/min. Her body mass index is 26 kg/m². Purplish, blanching telangiectasias are seen on her upper lip and nose. Jugular venous distention is present. A 3/6 holosystolic murmur is heard at the lower sternum that increases with inspiration. Lungs are clear to auscultation. The liver is enlarged and pulsatile. There is 2+ edema of both lower extremities. The remainder of the examination is within normal limits.
Laboratory results are as follows:

Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_9840_7011_853d_7f3c866f9ee0_MD0002_00 This patient's presentation is consistent with likely carcinoid syndrome. Carcinoids are generally slow-growing neuroendocrine tumors found most commonly in the distal small intestine, proximal colon, and lung. Tumors can secrete up to 40 products (eg, serotonin, histamine, vasoactive intestinal peptide) that are usually metabolized by the liver and cause minimal symptoms in many patients. Gastrointestinal carcinoid tumors most commonly metastasize to the liver and prevent this hepatic inactivation, resulting in carcinoid syndrome. In contrast, extraintestinal tumors (eg, bronchial) have direct access to the systemic circulation without immediate hepatic clearance of their products. As a result, these tumors can cause the syndrome without liver metastases. Carcinoid syndrome most commonly presents with episodic flushing (usually upper body for > 20-30 seconds) and secretory diarrhea. Other common features include cutaneous telangiectasias, bronchospasm, and tricuspid regurgitation. Wide metastases can increase tryptophan conversion to serotonin and its metabolite 5-hydroxyindoleacetic acid (HIAA). This may result in tryptophan and niacin deficiency causing pellagra (diarrhea, dermatitis, and dementia). Elevated 24-hour urinary 5-HIAA (> 90% sensitive and specific) usually confirms the diagnosis in most patients. Somatostatin analogs (eg, octreotide) provide symptomatic relief and can also prevent carcinoid crisis, a life-threatening complication due to tumor manipulation (eg, surgery, biopsy) or anesthesia causing release of large amounts of active products. (Choice B) The classic triad of pheochromocytoma consists of episodic headache, sweating, and tachycardia, and often paroxysmal hypertension. Other symptoms include tremor, palpitations, pallor, and panic attacks. This patient's absence of significant hypertension and headache makes this less likely. (Choice C) In systemic mastocytosis (increased mast cells), skin involvement most commonly presents with pruritus and/or urticaria pigmentosa (yellow-red raised papules or nodules in the upper or lower extremities). This patient's flushing and telangiectasias without rash or pruritus make this less likely. (Choice D) Systemic sclerosis usually presents with skin thickening and hardening, Raynaud phenomenon, arthralgias, and myalgias. Flushing is not typically seen in systemic sclerosis. (Choice E) VIPomas are neuroendocrine tumors that secrete vasoactive intestinal peptide (VIP). Patients typically present with large-volume secretory, watery diarrhea and electrolyte disturbances (eg, hypokalemia, hypochlorhydria). Flushing is present in about 20% of patients with VIPomas. However, this patient's cardiac involvement and cutaneous telangiectasias with absence of electrolyte abnormalities make VIPoma less likely. Educational objective: Carcinoid tumors are rare neuroendocrine tumors that cause episodic flushing, diarrhea, bronchospasm, and cardiac lesions. Elevated 24-hour urinary 5-hydroxyindoleacetic acid can confirm the diagnosis in most patients. Abdominal imaging (eg, computed tomography, magnetic resonance imaging) and OctreoScan can stage and localize tumor. Treatment involves somatostatin analogs (eg, octreotide) and surgery or chemoembolization for liver metastases. __________ References: Current status of gastrointestinal carcinoids. (http://www.ncbi.nlm.nih.gov/pubmed/15887161) Carcinoid syndrome: diagnosis and medical management. (http://www.ncbi.nlm.nih.gov/pubmed/16444370) Carcinoid heart disease. (http://www.ncbi.nlm.nih.gov/pubmed/22314145)

A 45-Year-Old Woman Comes to the Physician with Exertional Shortness