Plummer Vinson Syndrome

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ICD10 32 D50.1 MESH via Orphanet 44 D011004 ICD10 via Orphanet 33 D50.1

UMLS via Orphanet 72 C0032249 Orphanet 58 ORPHA54028 UMLS 71 C0032249

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 54028 Definition Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia , iron-deficiency anemia and esophageal webs. Epidemiology Exact data about the epidemiology of the syndrome are not available; the syndrome is extremely rare. Clinical description Most of the patients are white middle-aged women, in the fourth to seventh decade of life, but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers . Etiology The etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Management and treatment Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely. Visit the Orphanet disease page for more resources.

MalaCards based summary : Plummer Vinson Syndrome, also known as plummer-vinson syndrome, is related to patterson pseudoleprechaunism syndrome and jawad syndrome. Affiliated tissues include thyroid, spleen and tongue, and related phenotypes are dysphagia and narrow mouth

Search Clinical Trials , NIH Clinical Center for Plummer Vinson Syndrome

Search GEO for disease gene expression data for Plummer Vinson Syndrome.