n e w e ng l a n d j o u r na l
m e dic i n e
A Rash Hypothesis
Anne Y. Liu, M.D., Robert C. Lowe, M.D., Bruce D. Levy, M.D., Joel T. Katz, M.D., and Joseph Loscalzo, M.D., Ph.D.
In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his orher reasoning with the reader (regular type). The authors’ commentary follows.
From the Clinical Pathological Conference Series, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School (A.Y.L., B.D.L., J.T.K., J.L.); and the Department of Medicine, Boston Medical Center and Boston University Medical School (R.C.L.) — all in Boston. Address reprint requests to Dr. Katz at 75Francis St., Boston, MA 02115, or at email@example.com.
N Engl J Med 2010;363:72-8.
Copyright © 2010 Massachusetts Medical Society.
A 40-year-old woman presented with diarrhea, reporting to her physician that she had been having loose stools for 2 years, with 4 to 5 bowel movements per day, progressing over the previous 6 months to 15 large-volume, watery stools daily, including nocturnalstools. Abdominal cramps preceded these episodes and were partially relieved by bowel movements. Loperamide increased stool bulk but did not alter frequency. She noted no blood or oil in the stool. She had also been vomiting over the previous 2 months, more recently up to four times daily. The frequency of her diarrhea was not affected by food intake, although eating often precipitated vomiting.Despite a weight loss of nearly 7 kg (15 lb) in the previous 6 months, her abdominal girth had increased. She noted occasional palpitations and headaches but no fevers, night sweats, hematemesis, cough, or shortness of breath. This patient has chronic watery diarrhea. Although 2 years of loose stools with abdominal cramps in a 40-year-old woman can suggest a functional disorder, the nocturnal stools,vomiting, and weight loss are worrisome. Her report that food intake has no effect on the diarrhea suggests a secretory rather than an osmotic type of diarrhea. Large-volume, watery bowel movements with malabsorption point to a disorder of the small bowel, whereas vomiting suggests gastric involvement. Peptic ulcer disease or diabetes-related gastroparesis and diarrhea from autonomic neuropathymay cause these symptoms. Crohn’s disease affecting the ileum, jejunum, and stomach can also result in vomiting and diarrhea. Other conditions that may cause diarrhea and weight loss, such as celiac disease, giardiasis, or infection with the human immunodeficiency virus (HIV) and associated opportunistic infections, such as cryptosporidiosis, are unlikely to cause vomiting. Although uncommon, aninfiltrative disease such as amyloidosis could be the cause of severe, watery diarrhea and vomiting; it could also lead to organomegaly or ascites from portal hypertension, which might be manifested as increased abdominal girth, a feature of this case. The patient had had a mild rash since infancy, characterized by fixed pink patches on her trunk and limbs that became red and pruritic when scratchedor exposed to sun and heat, but not to hot showers. She reported that in adulthood the patches had become smaller and more diffuse, and over the previous year the itching had become more intense. She also had long-standing facial flushing, brought on by exertion or strong emotion. She took no medications regularly. Aspirin caused flushing and stomach irritation. She worked as a bank teller andlived with her husband. She had never smoked or used illicit drugs, and she did not drink alcohol because even a few sips brought on nausea and abdominal pain. She had never traveled outside New England. Her mother had died at 69 years of age from a myocardial infarction, and a
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