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Complicated peptic ulcer disease in three patients with familial dysautonomia. 2011

David W Wan, and Joseph Levy, and Howard B Ginsburg, and Horacio Kaufmann, and Felicia B Axelrod
Division of Gastroenterology, Department of Medicine, NYU Langone Medical Center, New York, NY, USA. David.Wan@nyumc.org

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by autonomic and sensory neuropathy. Owing to pervasive dysfunction, the disease has protean clinical manifestations, affecting the ocular, gastrointestinal, pulmonary, orthopedic, vasomotor, and neurologic systems. The gastrointestinal perturbations, including dysphagia, gastroesophageal dysmotility, gastroesophageal reflux, and vomiting crises, are among the earliest signs. Here, we present the first 3 instances of gastric ulcers in patients with FD and discuss their common presenting features and the special management that was required.

UI MeSH Term Description Entries
D008297 Male Males
D010437 Peptic Ulcer Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS). Gastroduodenal Ulcer,Marginal Ulcer,Gastroduodenal Ulcers,Marginal Ulcers,Peptic Ulcers,Ulcer, Gastroduodenal,Ulcer, Marginal,Ulcer, Peptic,Ulcers, Gastroduodenal,Ulcers, Marginal,Ulcers, Peptic
D004402 Dysautonomia, Familial An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) HSAN Type III,Hereditary-Sensory and Autonomic Neuropathy Type III,Neuropathy, Hereditary and Autonomic, Type III,Riley-Day Syndrome,Dominant Hereditary Sensory Neuropathy, Type III,Familial Dysautonomia,HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III,HSAN 3,HSAN III,HSAN3,HSN-III,Hereditary Sensory Neuropathy Type 3,Hereditary Sensory Neuropathy, Dominant, Type 3,Hereditary Sensory Neuropathy, Dominant, Type III,Hereditary Sensory Neuropathy, Type 3, Dominant,Hereditary Sensory and Autonomic Neuropathy 3,Neuropathy, Hereditary Sensory And Autonomic, Type III,Type 3 Hereditary Sensory Neuropathy, Dominant,Type III Hereditary Sensory Neuropathy, Dominant,Hereditary Sensory and Autonomic Neuropathy Type III,Riley Day Syndrome
D005260 Female Females
D006471 Gastrointestinal Hemorrhage Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Hematochezia,Hemorrhage, Gastrointestinal,Gastrointestinal Hemorrhages,Hematochezias
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D016099 Endoscopy, Gastrointestinal Endoscopic examination, therapy or surgery of the gastrointestinal tract. Endoscopic Gastrointestinal Surgical Procedures,Surgical Procedures, Endoscopic Gastrointestinal,Endoscopic Gastrointestinal Surgery,Gastrointestinal Endoscopic Surgical Procedures,Procedure, Endoscopic Gastrointestinal, Surgical,Procedure, Gastrointestinal Endoscopic Surgical,Procedures, Endoscopic Gastrointestinal, Surgical,Procedures, Gastrointestinal Endoscopic Surgical,Surgical Procedure, Endoscopic Gastrointestinal,Endoscopic Gastrointestinal Surgeries,Endoscopies, Gastrointestinal,Gastrointestinal Endoscopies,Gastrointestinal Endoscopy,Gastrointestinal Surgeries, Endoscopic,Gastrointestinal Surgery, Endoscopic,Surgeries, Endoscopic Gastrointestinal,Surgery, Endoscopic Gastrointestinal
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults

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