Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study.
Although achalasia is usually of idiopathic origin, it may be secondary to another disease process such as neoplasia. The first description of a familial achalasia syndrome that appears to be secondary to diffuse esophageal leiomyomatosis with entrapment of nerve ganglia is presented. Documented in four generations of a family, the disease followed an autosomal dominant mode of inheritance. Long lower esophageal sphincter pressure zones and a high incidence of epiphrenic diverticula were interesting accompaniments of achalasia in this family. Many achalasia-affected family members have also had associated intestinal leiomyomas or neurofibromas. Affected family members also had urticaria pigmentosa, and some had systemic mast cell disease as well.
Marshall
J B
JB
Department of Medicine, University of Missouri-Columbia School of Medicine.
Diaz-Arias
A A
AA
Bochna
G S
GS
Vogele
K A
KA
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D025063:Chromosome Disorders; D003680:Deglutition Disorders / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D004938:Esophageal Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D007889:Leiomyoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008415:Mastocytosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree