ACHALASIA IN MOTHER AND DAUGHTER
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1 GASTROENTEROLOGY Copyright 1972 by The Williams & Wilkins Co. Vol. 62. No.5 Printed in U.S.A. ACHALASIA IN MOTHER AND DAUGHTER ZACHARY M. KILPATRICK, M.D., AND SAUL S. MILLES, M.D. The Medical College of Georgia, Augusta, Georgia, and Yale University School of Medicine, New Haven, Connecticut Achalasia in parent and offspring has been documented for the first time. The familial occurrence of achalasia has been reviewed. The occurrence of this disorder in family groups permits speculation that genetic factors may playa role in the pathogenesis of achalasia. The etiology of achalasia remains unknown, although the esophagus responds to parasympathomimetic drugs as though it had undergone parasympathetic denervation. 1 Whether genetic factors might operate in causing the degenerative changes in nerve fibers 2 has not been widely considered, but the occurrence of achalasia in families allows some speculation about the role of genetic factors. Here we report 2 patients, a mother and a daughter, in whom for the first time there is a clear documentation of achalasia in a parent and a child. Case Report Case 1. For 4 years before admission this 50- year-old white woman had had difficulty swallowing both liquids and solids. She occasionally awoke from sleep choking and coughing. She had lost 30 lb. Physical examination was unremarkable. X-ray examination of the esophagus showed it to be dilated with a smoothly tapered and narrowed distal end (fig. 1). Esophagoscopy revealed a normal esophageal mucosa and a moderately dilated lumen with some feeble esophageal contractions. The distal esophageal lumen became tapered and narrowed, but the esophagoscope passed easily into the stomach. An esophageal motility study was performed using an unperfused system with three poly- Received August 16, Accepted December 18, Address requests for reprints to: Dr. Zachary Kilpatrick, Department of Medicine, Medical College of Georgia, Augusta, Georgia vinyl catheters having side openings 5 cm apart. The lower esophageal high pressure zone failed to relax after swallows. In the distal esophagus simultaneous pressure increments followed swallows, but in the proximal twothirds there were no contractions at all. A normal upper esophageal high pressure zone was present. Following the injection of 2.5 mg of Methacholine (Mecholyl) the patient experienced a sensation of substernal pressure. The intraesophageal pressure increased, and rhythmic, simultaneous contractions occurred. The patient underwent pneumostatic dilation of the distal esophagus with a Mosher bag inflated to 15 Ib pressure for 1 min. Under fluoroscopic control the bag was seen to expand fully, and the patient had retrosternal pain. Subsequently she had remarkable relief of her dysphagia and could eat and drink without difficulty. Case 2. Eight years before her admission and 5 years before her daughter's symptoms began, the mother of the 1st patient developed dysphagia when she was 59 years old. An X-ray of the esophagus 5 years before admission had shown typical findings of achalasia. Dilation with mercury-filled bougies had brought considerable transient improvement, but in the year preceding admission her dysphagia failed to respond to bougie dilation. Radiological examination showed the esophagus to be markedly dilated and tortuous with retained secretions and a smooth tapered distal portion (fig. 2). Only small amounts of barium entered the stomach. At esophagoscopy a large amount of retained liquid and undigested food was present, but there was no esophagitis or ulceration. Fluoroscopically monitored pneumostatic dilation with 9 Ib pressure for 3 min resulted in improvement in her swallowing. lo42
2 May 1972 CASE REPORTS 1043 The occurrence of achalasia in two or more members of the same family is extremely rare and heretofore has always been described in siblings (table 1). Tyce and Brough 3 described a family in which two males among nine siblings had a syndrome of esophageal achalasia, mental deficiency, cerebellar ataxia, bilateral optic atrophy, and a speech disorder. In these two brothers achalasia was demonstrated by radiographic studies and confirmed at the time of Heller esophagomyotomy. Their esophageal symptoms began at age 29 and 24, respectively. In two other FIG. 1. The daughter's esophagogram showing dilation and a narrowed distal end. Discussion FIG. 2. The mother's esophagogram showing a markedly dilated and tortuous esophagus with retained secretions and a smoothly tapered distal portion.
3 1044 CASE REPORTS Vol. 62, No.5 TABLE 1. Familial occu"ence of achalasia Affected Reference family Sex Age at onset Means of documentation Commebts member Tyce and Brother Male 29 years, Mental deficiency Brough' esophageal motility, cerebellar ataxia, findings at operation bilateral optic atrophy, and speech disorder also present Brother Male 24 years Nagler et al. ' Fraternal Male 31 years, Achalasia in fratwin esophageal motility ternal twins Fraternal Female 32 years, twin esophageal motility Thibert et al. 5 Brother Male 2 years Two families in Brother Male "Childhood" which achalasia Brother Male 10 months was present in Brother Male 5 years brothers Cloude et al. 6 Four sib- Not men- "Less than Not specified Full-blooded Apache lings tioned 6 years Indian old" Polonsky and Sister Female 5 years Family of Mexican Guth' extraction Sister Female Before 1% years Ellis and Brother Male 51 years Olsen' Sister Female Not specified Sister Female Not specified di Bello and Brother Male About 20 Carcinoma of esophagus Zilli years diagnosed Brother Male Before 20 years Brother Male Unknown This report Mother Female 59 years Daughter Female 46 years, esophageal motility age 50 Carcinoma of esophagus diagnosed age 50 Achalasia in mother and daughter brothers with neurological symptoms, achalasia was presumed to be present because of intermittent bouts of emesis that led to their death_ Their symptoms began when they were 9 and 19 years old, respectively. Although mental disease had been documented for three generations, there was no history of esophageal disorders in the parents or grandparents_ 3 Achalasia in brother and sister who were fraternal twins was demonstrated by Nagler.4 The brother first noted dysphagia at age 31. His 34-year-old sister had developed intermittent retrosternal pain and later dysphagia and weight loss 2 years before her evaluation. The parents, both deceased, had never had clinical evidence of achalasia. Thibert 5 reported two brothers in each of two families to be affected. In one family a 4-year-old boy began regurgitating at age 2, and his 16-year-old brother began to regurgitate in childhood ("des l'enfance"). In the other family a 14-year-old boy's first symptoms was regurgitation at age 10 months, and his brother became symptomatic at age 5. In one family of full-blooded Apache Indians four siblings, all less than 6 years old, had achalasia. No further details were pro-
4 May 1972 CASE REPORTS 1045 vided in the report which dealt with surgical treatment. 6 Polonsky and Guth 7 describe achalasia in two sisters of Mexican extraction. The older, age 8, developed dysphagia 3 years before her evaluation. Her 1 % -year-old sister had suffered recurrent respiratory infections, increasing cough, and emesis before achalasia was diagnosed. Their brother had died at age 41/2 with dysphagia, emesis, recurrent respiratory infections, and failure to thrive. These symptoms suggested achalasia, but there had been no medical evaluation. Careful questioning of the girls' mother failed to reveal symptoms of achalasia in parent, grandparents, uncles, or aunts. In another family, one brother was diagnosed as having achalasia at age 51. He said his father and two sisters had the same disease. Clinical and radiological features of achalasia were present in the cases of the two sisters, but documentation of the nature of the father's illness was not available. 8 In a family with five brothers, three had radiographically demonstrated achalasia. In two of the brothers dysphagia first appeared around age 20. At age 50 carcinoma of the esophagus was diagnosed in each of these men. Information about the onset of the third brother's esophageal symptoms was not provided. 9 Our patient was closely questioned about the occurrence of swallowing difficulties, esophageal disease, or achalasia in her family. Her father, maternal grandparents, her mother's only brother, and her only sister had no such problems, and her adopted son was in excellent health. The mother and daughter had not lived together during the time before esophageal symptoms began, nor had they traveled to the southwestern part of the United States or to more southerly countries where Chagas' disease might have been contracted. While it might be speculated that dietary, emotional, or infectious factors might have played a role in the occurrence of achalasia in the mother and her daughter, no evidence supporting these possibilities was uncovered. The incidence of achalasia has been estimated to be in the range of 1 per 100,000 population per year,8 and in Rochester, Minnesota, to be 0.6 per 100,000 per year.10 If the latter figure is used, and, considering that the daughter developed symptoms 5 years after the mother's symptoms first appeared, the probability that one or both of the mother's daughters might have developed achalasia by chance alone during the 5-year interval would be extremely small (P = ). [1 - (1 - [0.6/100,000] x 5)2 = probability that at least one of the two daughters would develop achalasia in 5 years by chance alone.] Taking in consideration the problem of developing reliable estimates of the incidence of a disease that occurs infrequently, two conclusions may be warranted. Either we observed a very rare event, the chance occurrence of achalasia in mother and daughter, or there is a familial tendency for this disease in this family. Since the above considerations are actually the testing of an a posteriori hypothesis, we cannot be confident which of the conclusions is valid. Although the role of heredity in human achalasia is difficult to assess because of the small number of cases reported, a hereditary pattern of esophageal achalasia has been observed in inbred wire fox terriers. 11 There were several litters in which both male and female dogs had achalasia. One dog was a direct ancestor of nearly all the dogs with achalasia, and it is of additional interest that this dog was also the sire of most of the stud dogs imported into the United States. Analysis of pedigrees led to the tentative hypothesis that a one-locus, two-allele, autosomal model with complete phenotypic dominance of the achalasia allele was operative. 11 The possible contribution of hereditary factors to the occurrence of achalasia in mother and daughter, and the reported occurrence of achalasia in siblings in several family groups permits speculation that genetic factors may playa role in the pathogenesis of this disorder. The number of familial cases so far reported is too small
5 1046 CASE REPORTS Vol. 62, No.5 to permit clarification of this point. More epidemiological data are needed to provide an answer to this question. REFERENCES 1. Kramer P, Ingelfinger FJ: Esophageal sensitivity to Mecholyl in cardiospasm. Gastroenterology 19: , Cassella RR, Brown AL Jr, Sayre GP, et al: Ach alasia of the esophagus: pathologic and etiologic considerations. Ann Surg 160: , Tyce FA, Brough W: The appearance of an undescribed syndrome and the inheritance of multiple diseases in three generations of a family. Psychiatric Research Reports of the American Psychiatric Association 15:73-79, April, Nagler RW, Schwartz RD, Stahl WM Jr, et al: Achalasia in fraternal twins. Ann Intern Med 59: , Thibert F, Chicione R, Chartier-Ratelle G, et al: Forme familia Ie de l'achalasie de l'oesophage chez l'enfant. Union Med Can 94: , Cloude DT Jr, White RF, Linkner LM, et al: Surgical treatment of esophageal achalasia in children. J Pediatr Surg 1: , Polonsky L, Guth PH: Familial achalasia. Am J Dig Dis 15: , Ellis FH Jr, Olsen AM: Achalasia of the esophagus. Philadelphia, WB Saunders Co, 1969, p di Bello B, Zil\i L: Associazione di cancro e megaesofago in due fratelli. Acta Chir Ital 16: , Earlam RJ, Ellis FH Jr, Nobrega FT: Achalasia of the esophagus in a small urban community. Mayo Clin Proc 44: , Osborne CA, Clifford DH, Jessen C: Hereditary esophageal achalasia in dogs. J Am Vet Med Assoc 151: , 1967
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