Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study
Marshall, J.B.; Diaz-Arias, A.A.; Bochna, G.S.; Vogele, K.A.
Gastroenterology 98(5 Pt 1): 1358-1365
1990
ISSN/ISBN: 0016-5085 PMID: 2323526 Document Number: 358008
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.