Abstract
Of 167 patients with achalasia asked to provide details of swallowing difficulties among their first degree relatives, 159 completed the survey (95% response rate). One thousand and twelve first degree relatives were identified, and 14 were reported to have dysphagia including two with reported achalasia. Review of the case notes of these 14 relatives showed, however, that in none was achalasia confirmed. Heartburn affected 54 (5%) of the relatives, an incidence similar to that in the general population. These findings suggest that adult achalasia is not inherited in an autosomal recessive manner and that environmental factors during early life do not play an important aetiological part.
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Selected References
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- Bosher L. P., Shaw A. Achalasia in siblings. Clinical and genetic aspects. Am J Dis Child. 1981 Aug;135(8):709–710. doi: 10.1001/archpedi.1981.02130320023007. [DOI] [PubMed] [Google Scholar]
- Dayalan N., Chettur L., Ramakrishnan M. S. Achalasia of the cardia in sibs. Arch Dis Child. 1972 Feb;47(251):115–118. doi: 10.1136/adc.47.251.115. [DOI] [PMC free article] [PubMed] [Google Scholar]
- London F. A., Raab D. E., Fuller J. Achalasia in three siblings: a rare occurrence. Mayo Clin Proc. 1977 Feb;52(2):97–100. [PubMed] [Google Scholar]
- Mayberry J. F., Rhodes J., Newcombe R. G. Familial prevalence of inflammatory bowel disease in relatives of patients with Crohn's disease. Br Med J. 1980 Jan 12;280(6207):84–84. doi: 10.1136/bmj.280.6207.84. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nebel O. T., Fornes M. F., Castell D. O. Symptomatic gastroesophageal reflux: incidence and precipitating factors. Am J Dig Dis. 1976 Nov;21(11):953–956. doi: 10.1007/BF01071906. [DOI] [PubMed] [Google Scholar]
- Osborne C. A., Clifford D. H., Jessen C. Hereditary esophageal achalasia in dogs. J Am Vet Med Assoc. 1967 Sep 1;151(5):572–581. [PubMed] [Google Scholar]
- Stein D. T., Knauer C. M. Achalasia in monozygotic twins. Dig Dis Sci. 1982 Jul;27(7):636–640. doi: 10.1007/BF01297220. [DOI] [PubMed] [Google Scholar]
- Stoddard C. J., Johnson A. G. Achalasia in siblings. Br J Surg. 1982 Feb;69(2):84–85. doi: 10.1002/bjs.1800690209. [DOI] [PubMed] [Google Scholar]
- Westley C. R., Herbst J. J., Goldman S., Wiser W. C. Infantile achalasia; inherited as an autosomal recessive disorder. J Pediatr. 1975 Aug;87(2):243–246. doi: 10.1016/s0022-3476(75)80593-2. [DOI] [PubMed] [Google Scholar]