Skip to main content
PMC home page
Gut logoLink to Gut
. 1988 Nov;29(11):1595–1602. doi: 10.1136/gut.29.11.1595

Family occurrence of achalasia and diffuse spasm of the oesophagus.

T Frieling 1, W Berges 1, F Borchard 1, H J Lübke 1, P Enck 1, M Wienbeck 1
PMCID: PMC1433819  PMID: 3061886

Abstract

In view of the unknown aetiology of achalasia and diffuse oesophageal spasm we report four families (father/son, mother/son, brother/brother, cousin/cousin) with achalasia and oesophageal spasm examined by radiology, endoscopy and manometry. Family occurrence of oesophageal motor disorders supports the hypothesis that a genetic trait may play a role in the pathogenesis. The family coincidence of achalasia and oesophageal spasm supports a close relationship between the two diseases.

Full text

PDF
1597

Images in this article

1598Fig. 2
on p.1598
1599Fig. 3
on p.1599

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aggestrup S., Uddman R., Sundler F., Fahrenkrug J., Håkanson R., Sørensen H. R., Hambraeus G. Lack of vasoactive intestinal polypeptide nerves in esophageal achalasia. Gastroenterology. 1983 May;84(5 Pt 1):924–927. [PubMed] [Google Scholar]
  2. Allgrove J., Clayden G. S., Grant D. B., Macaulay J. C. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978 Jun 17;1(8077):1284–1286. doi: 10.1016/s0140-6736(78)91268-0. [DOI] [PubMed] [Google Scholar]
  3. Badrawy R., Abou-Bieh A. Congenital achalasia of the oesophagus in children. J Laryngol Otol. 1975 Jul;89(7):697–706. doi: 10.1017/s0022215100080919. [DOI] [PubMed] [Google Scholar]
  4. Berges W., Stolze T., Wienbeck M. Differentialdiagnostische Probleme bei der Abgrenzung von Achalasie und Osophagusspasmus. Z Gastroenterol. 1980 Jul;18(7):365–369. [PubMed] [Google Scholar]
  5. 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]
  6. CASSELLA R. R., BROWN A. L., Jr, SAYRE G. P., ELLIS F. H., Jr ACHALASIA OF THE ESOPHAGUS: PATHOLOGIC AND ETIOLOGIC CONSIDERATIONS. Ann Surg. 1964 Sep;160:474–487. doi: 10.1097/00000658-196409000-00010. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Castell D. O. Achalasia and diffuse esophageal spasm. Arch Intern Med. 1976 May;136(5):571–579. [PubMed] [Google Scholar]
  8. Chawla K., Chawla S. K., Alexander L. L. Familial achalasia of the esophagus in mother and son: a possible pathogenetic relationship. J Am Geriatr Soc. 1979 Nov;27(11):519–521. doi: 10.1111/j.1532-5415.1979.tb01741.x. [DOI] [PubMed] [Google Scholar]
  9. Csendes A., Smok G., Braghetto I., Ramirez C., Velasco N., Henriquez A. Gastroesophageal sphincter pressure and histological changes in distal esophagus in patients with achalasia of the esophagus. Dig Dis Sci. 1985 Oct;30(10):941–945. doi: 10.1007/BF01308293. [DOI] [PubMed] [Google Scholar]
  10. DI BELLO B., ZILLI L. [Association of cancer and megaesophagus in 2 brothers]. Acta Chir Ital. 1960 Mar-Apr;16:267–294. [PubMed] [Google Scholar]
  11. 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]
  12. Dufresne C. R., Jeyasingham K., Baker R. R. Achalasia of the cardia associated with pulmonary sarcoidosis. Surgery. 1983 Jul;94(1):32–35. [PubMed] [Google Scholar]
  13. Earlam R. J., Ellis F. H., Jr, Nobrega F. T. Achalasia of the esophagus in a small urban community. Mayo Clin Proc. 1969 Jul;44(7):478–483. [PubMed] [Google Scholar]
  14. Eaves R., Lambert J., Rees J., King R. W. Achalasia secondary to carcinoma of prostate. Dig Dis Sci. 1983 Mar;28(3):278–284. doi: 10.1007/BF01295124. [DOI] [PubMed] [Google Scholar]
  15. Eckrich J. D., Winans C. S. Discordance for achalasia in identical twins. Dig Dis Sci. 1979 Mar;24(3):221–224. doi: 10.1007/BF01308434. [DOI] [PubMed] [Google Scholar]
  16. Jones D. B., Mayberry J. F., Rhodes J., Munro J. Preliminary report of an association between measles virus and achalasia. J Clin Pathol. 1983 Jun;36(6):655–657. doi: 10.1136/jcp.36.6.655. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Kaye M. D., Demeules J. E. Achalasia and diffuse oesophageal spasm in siblings. Gut. 1979 Sep;20(9):811–814. doi: 10.1136/gut.20.9.811. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Kilpatrick Z. M., Milles S. S. Achalasia in mother and daughter. Gastroenterology. 1972 May;62(5):1042–1046. [PubMed] [Google Scholar]
  19. Koivukangas T., Similä S., Heikkinen E., Räsänen O., Wasz-Höckert O. Sjögren's syndrome and achalasia of the cardia in two siblings. Pediatrics. 1973 May;51(5):943–945. [PubMed] [Google Scholar]
  20. Kramer P., Harris L. D., Donaldson R. M., Jr Transition from symptomatic diffuse spasm to cardiospasm. Gut. 1967 Apr;8(2):115–119. doi: 10.1136/gut.8.2.115. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Köteles G., Kemény P., Reich K. Familiäre infantile Achalasie. 3 Fälle bei Geschwistern einer Familie. Monatsschr Kinderheilkd. 1975 Jan;123(1):9–14. [PubMed] [Google Scholar]
  22. 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]
  23. Mackler D., Schneider R. Achalasia in father and son. Am J Dig Dis. 1978 Nov;23(11):1042–1045. doi: 10.1007/BF01263105. [DOI] [PubMed] [Google Scholar]
  24. Menin R., Fisher R. S. Return of esophageal peristalsis in achalasia secondary to gastric cancer. Dig Dis Sci. 1981 Nov;26(11):1038–1044. doi: 10.1007/BF01314770. [DOI] [PubMed] [Google Scholar]
  25. NAGLER R. W., SCHWARTZ R. D., STAHL W. M., Jr, SPIRO H. M. ACHALASIA IN FRATERNAL TWINS. Ann Intern Med. 1963 Dec;59:906–910. doi: 10.7326/0003-4819-59-6-906. [DOI] [PubMed] [Google Scholar]
  26. Oliveira R. B., Troncon L. E., Meneghelli U. G., Padovan W., Dantas R. O., de Godoy R. A. Impaired gastric accommodation to distension and rapid gastric emptying in patients with Chagas' disease. Dig Dis Sci. 1980 Oct;25(10):790–794. doi: 10.1007/BF01345301. [DOI] [PubMed] [Google Scholar]
  27. 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]
  28. PAYNE W. S., ELLIS F. H., Jr, OLSEN A. M. Treatment of cardiospasm (achalasia of the esophagus) in children. Surgery. 1961 Nov;50:731–735. [PubMed] [Google Scholar]
  29. Raizman R. E., Neva F. A., Eckert R. J., Duffy P. A., Lipshutz W. H. Chagasic megaesophagus: similarity to achalasia by manometrics, radiography, and response to pneumatic dilation. Am J Dig Dis. 1975 Sep;20(9):882–888. doi: 10.1007/BF01070959. [DOI] [PubMed] [Google Scholar]
  30. Roark G., Shabot M., Patterson M. Achalasia secondary to hepatocellular carcinoma. J Clin Gastroenterol. 1983 Jun;5(3):255–258. doi: 10.1097/00004836-198306000-00012. [DOI] [PubMed] [Google Scholar]
  31. Rozycki D. L., Ruben R. J., Rapin I., Spiro A. J. Autosomal recessive deafnessassociated with short stature, vitiligo, muscle wasting and achalasia. Arch Otolaryngol. 1971 Feb;93(2):194–197. doi: 10.1001/archotol.1971.00770060280016. [DOI] [PubMed] [Google Scholar]
  32. SWENSON O., OECONOMOPOULOS C. T. Achalasia of the esophagus in children. J Thorac Cardiovasc Surg. 1961 Jan;41:49–59. [PubMed] [Google Scholar]
  33. Schmidt E., Bruch H-P Erste Erfahrungen mit dem Alpha-Receptorenblocker Phentolamin bei Achalasie. Chirurg. 1978 Jan;49(1):22–24. [PubMed] [Google Scholar]
  34. 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]
  35. 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]
  36. Thibert F., Chicoine R., Chartier-Ratelle G., Thibodeau L. P., Collin P. P., Collu R. Forme familiale de l'achalasie de l'oesophage chez l'enfant. Union Med Can. 1965 Oct;94(10):1293–1300. [PubMed] [Google Scholar]
  37. Tucker H. J., Snape W. J., Jr, Cohen S. Achalasia secondary to carcinoma: manometric and clinical features. Ann Intern Med. 1978 Sep;89(3):315–318. doi: 10.7326/0003-4819-89-3-315. [DOI] [PubMed] [Google Scholar]
  38. Uzunov G. Familiäre Achalasie des Osophagus im Süglingsalter. Radiol Diagn (Berl) 1982;23(1):31–33. [PubMed] [Google Scholar]
  39. Vantrappen G., Janssens J., Hellemans J., Coremans G. Achalasia, diffuse esophageal spasm, and related motility disorders. Gastroenterology. 1979 Mar;76(3):450–457. [PubMed] [Google Scholar]
  40. Vaughan W. H., Williams J. L. Familial achalasia with pulmonary complications in children. Radiology. 1973 May;107(2):407–409. doi: 10.1148/107.2.407. [DOI] [PubMed] [Google Scholar]
  41. 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]
  42. Zimmerman F. H., Rosensweig N. S. Achalasia in a father and son. Am J Gastroenterol. 1984 Jul;79(7):506–508. [PubMed] [Google Scholar]

Articles from Gut are provided here courtesy of BMJ Publishing Group

RESOURCES