Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 17-year-old female complained of difficulty swallowing and recurrent vomiting of one year duration. She stated that she was trying to gain weight. She felt that a weight at the 5th percentile for age was appropriate for her 70th percentile height. She denied binge eating, self-induced vomiting, concern over abnormal eating, or depressed mood. She had low normal intelligence, long-standing problems with school and peer relationships, and was experiencing significant conflict with her stepfather. The mother noted that her daughter's symptoms had begun at the time her prized horse went lame. Physical examination was unremarkable except for thinness. At a two-week follow-up visit, all vomiting had ceased and the patient had gained 1.6 kg. Plans for a barium esophagogram were cancelled and psychiatric consultation was arranged. A six-week followup revealed no vomiting, although weight gain had not progressed. Six months later, the patient was seen with a two-month history of recurrent vomiting. A barium esophagogram revealed achalasia. Pneumatic dilation of the lower esophageal sphincter was successful. Seventeen months after the initial visit the patient was asymptomatic, happy, and seemingly well adjusted.
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PMID:An adolescent with vomiting and weight loss. 649 Apr 83

We have reported a rather extreme instance in which achalasia was misdiagnosed as a primary eating disorder. Our patient spent 2 months in a psychiatric institution before the correct diagnosis was made. Misdiagnosis in this case could have been avoided (1) if the symptoms of dysphagia had been elicited as part of her history, (2) if it had been recognized that the vomiting (her dominant symptom) was involuntary and not self-induced, (3) if the absence of disturbed body image had been appreciated, or (4) if it had been recognized that she did not meet accepted criteria for anorexia nervosa or bulimia. Our case and others like it in the literature also illustrate that achalasia frequently remains an elusive diagnosis.
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PMID:Achalasia mistakenly diagnosed as eating disorder and prompting prolonged psychiatric hospitalization. 827 22

Anorexia nervosa (AN) and bulimia nervosa (BN) are potentially fatal eating disorders which primarily affect adolescent females. Differentiating eating disorders from primary gastrointestinal (GI) disease may be difficult. GI disorders are common in eating disorder patients, symptomatic complaints being seen in over half. Moreover, many GI diseases sometimes resemble eating disorders. Inflammatory bowel disease, acid peptic diseases, and intestinal motility disorders such as achalasia may mimic eating disorders. However, it is usually possible to distinguish these by applying the diagnostic criteria for eating disorders and by obtaining common biochemical tests. The primary features of AN are profound weight loss due to self starvation and body image distortion; BN is characterized by binge eating and self purging of ingested food by vomiting or laxative abuse. GI complications in eating disorders are common. Recurrent emesis in BN is associated with dental abnormalities, parotid enlargement, and electrolyte disturbances including metabolic alkalosis. Hyperamylasemia of salivary origin is regularly seen, but may lead do an erroneous diagnosis of pancreatitis. Despite the weight loss often seen in eating disorders, serum albumin, cholesterol, and carotene are usually normal. However, serum levels of trace metals such as zinc and copper often are depressed, and hypophosphatemia can occur during refeeding. Patients with eating disorders frequently have gastric emptying abnormalities, causing bloating, postprandial fullness, and vomiting. This usually improves with refeeding, but sometimes treatment with pro-motility agents such as metoclopromide is necessary. Knowledge of the GI manifestations of eating disorders, and a high index of suspicion for one condition masquerading as the other, are required for the correct diagnosis and management of these patients.
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PMID:Gastrointestinal and nutritional aspects of eating disorders. 840 9