Journal of the Royal Society of Medicine Volume 71 July 1978
529
Discussion This patient has the 'adult' form of polycystic disease, inherited as a mendelian dominant and said to be found in between 1:500 and 1 :1000 post-mortem examinations (Robbins 1962). Her hypertension and elevated plasma urea and creatinine are evidence of quite severe impairment of renal function although the patient remains asymptomatic from this point of view. As is usual in this condition, the hepatic lesion causes neither symptomatic nor biochemical abnormality. It is of interest that neither the patient's parents nor her two more elderly siblings had ever been diagnosed as suffering from renal disease, although both parents died from cerebrovascular accidents, and both siblings are receiving hypotensive therapy. The attacks of pain described by the patient were entirely consistent with 'biliary colic'. The gallbladder certainly contained several stones, and since its removal she has had no further pain. The reported attack of jaundice followed a period of such pain and almost certainly would have been caused by the passage of a calculus through the common bile duct. It would seem extremely unlikely that the degree of obstruction of the biliary tree caused by the hepatic cysts would itself produce jaundice. There was no biochemical evidence of biliary obstruction during the period of her investigation and treatment. Use of the fibreoptic choledochoscope has been fully described by Ashby (1976, 1977). In this case it not only allowed the rapid clarification of an unusual situation, but shortened recovery by allowing closure of the common bile duct without T-tube drainage. The case is of particular interest not only because of the apparent ability of small hepatic cysts to mimic the ERCP appearance of stones within the extrahepatic bile ducts, but because it is believed that the choledochoscopic findings in such a situation have not been described previously.
References Ashby B S (1976) Proceedings of the Royal Society of Medicine 69, 331 Ashby B S (1977) Hospital Update 3, 287 Robbins S L (1962) Textbook of Pathology. Saunders, Philadelphia & London; p 785
Asthma, rectal prolapse and malabsorption Alan E P Cameron MA BM (for A P Wyatt FRCS and W M Seymour MRCP) Brook General Hospital, London SE18 History E C, a woman aged 73, was first seen in 1974 with a two-day history of abdominal pain. For the preceding two years she had had intermittent attacks of diarrhoea during which she passed bulky, soft, offensive stools. She had been asthmatic since her early forties, and was helped by salbutamol inhalations, but had no other past history and took no other drug. There was a family history of atopy: the patient's mother had been asthmatic, and her daughter had severe hay-fever. On examination, the patient was thin and was slightly pigmented, but there was no significant abnormality. The abdominal pain settled on a low residue diet and, as a subsequent barium enema was normal, she was discharged from follow up. In 1975 the patient complained of more troublesome diarrhoea. Physical examination was again negative. It was thought that she might have diverticular disease. A high residue diet was advised, but the patient, confused by this complete reversal of previous treatment, did not change her food or reattend the clinic. A surgical domiciliary opinion was sought in 1977. The patient had developed a rectal prolapse and had become a social recluse. Her stools were always loose and bulky, she had lost weight, and had become more pigmented. On examination she was very thin indeed, had a distended abdomen with visible peristalsis, and had an 8 cm complete rectal prolapse. 0 1 41-0768/78/0071-0529/$O 1.00/0
(V') 1978 The Royal Society of Medicine
530
Journal of the Royal Society of Medicine Volume 71 July 1978
Investigations Peripheral blood: Haemoglobin 11.3 g/dl, mean corpuscular volume 103 fl; serum folate and red blood cell folate were normal; serum B12, 213 mg/l (range 300-900 mg/l); serum calcium, 2.07 mmol/l (range 2.15-2.60 mmol/l); immunoglobulins were normal; thyroid, gastric, smooth muscle, heart muscle and reticulin autoantibodies were negative, but antinuclear factor was positive. Gastrointestinalfunction: Small bowel meal (Figure 1) showed delay in passage of barium, with dilatation and an abnormal mucosal pattern. (A barium meal had been performed in 1971 at the request of the patient's general practitioner, and was normal.) Faecal fat excretion was
Figure 1. Small bowel meal
raised, 138.6 mmol of stearic acid in 5 days (normally 90 mmol). D-xylose excretion was reduced, only 11I% of a 5 g dose excreted after 2 hours (normally 14-34Oo) and only 22o% after 5 hours (normally 23-48oo). Stool culture was negative. Lung function: Forced expiratory volume in the first second, 0. 6 litres (expected 1.6 litres); Ventilatory capacity, 1.5 litres (expected 1.8 litres); peak expiratory flow rate, 1.8 1/mmn (expected 4.9 1/mmn). These figures improved slightly after isoprenaline. Skin testing- showed allergy to house dust and grass pollens. The patient refused a Crosby capsule small bowel biopsy. She was started on a therapeutic trial of a gluten-free diet. The response was dramatic, for the diarrhoea ceased and she has gained weight. She will be admitted shortly for Ivalon sponge repair of her prolapse if this does not resolve spontaneously. Discussion The length of history, the continuing response to gluten withdrawal, and the normal serum IgA are all against a diagnosis of intestinal lymphomatosis, so it seems reasonably certain that this patient has adult coeliac disease. There is probably a relationship between her coeliac disease and asthma, and between coeliac disease and the rectal prolapse.
Journal of the Royal Society of Medicine Volume 71 July 1978
531
The aetiology of coeliac disease is well established (Strober 1975). Rubin et al. (1965) showed that gliadin binds to the jejunal mucosa, and Loeb et al. (1971) found that when coeliac patients are challenged with gliadin, synthesis of specific IgA and IgM antibody occurs in the mucosa. Investigation of the humoral immune system in coeliac patients has revealed several abnormalities, although these may merely reflect the disease rather than be its cause. The normal preponderance of IgA-producing cells in the gut is reduced (Pettingale 1971), as is the response to ingested polio antigens (Beale et al. 1971). Serum IgA tends to be raised (Asquith et al. 1969), although conversely, Hobbs (1971) reported that frank IgA deficiency is twelve times commoner in coeliac patients than in the general population. There may also be disorders of cell-mediated immunity. Holmes et al. (1972) showed a reduced ability of lymphocytes to respond to phytohaemagglutinin stimulation. Interestingly, in patients with coeliac disease, the incidence of carcinoma of the oesophagus and of lymphoma of the small bowel are, respectively, 70 and 150 times the expected (Harris et al. 1967). These abnormalities may be linked to the presence of the HLA-B8 antigen, which is found in 88% of coeliac patients, but in 22% of control patients (Falchuk et al. 1972). There are many case reports of association between coeliac disease and extrinsic allergic alveolitis. Berrill et al. (1975) found that 31% of his patients with bird-fanciers lung had degrees of villous atrophy, and suggested that jejunal biopsy should be a routine investigation. Late onset asthma may be a disorder of general immunity, and it is therefore not surprising that a connection with coeliac disease exists. Hodgson et al. (1976) found a significant association between coeliac disease and a personal or family history of the atopic disorders asthma, hayfever and flexural eczema. Rectal prolapse is caused by 'mechanical' defects - perhaps a combination of laxity of supporting tissues and intussusception of the rectum. Alteration of bowel habit, whether chronic diarrhoea or chronic straining at stool, is an aggravating factor. Rectal prolapse in children is recognized as a consequence of cystic fibrosis. Kulczycki & Shwachman (1958) found that prolapse of the rectum had occurred by the age of 3 years in 20% of untreated children. Edwards & Truelove (1964) found that 1.3% of adults with ulcerative colitis developed rectal prolapse. Nevertheless, the large published series on surgical aspects of rectal prolapse make little mention of inflammatory bowel diseases as specific causes in adults (see Mann 1969, Kupfer & Goligher 1970, Morgan et al. 1972). This patient's untreated coeliac disease probably caused her rectal prolapse, but the prolapse was itself the symptom which finally led to the diagnosis. There do not appear to be other published reports of such a presentation.
References Asquith P, Thompson R A & Cooke W T (1969) Lancet ii, 129 Beale A J, Douglas A P, Parish W E & Hobbs J R (1971) Lancet i, 1189 Berrili W T, Eade 0 E, Fitzpatrick P F, Hyde 1, MacLeod W M & Wright R (1975) Lancet ii, 1006 Edwards F C & Truelove S C (1964) Gut 5, 1 Falchuk Z M, Rogentine G N & Strober W (1972) Journal of Clinical Investigation 51, 1602 Harris 0 D, Cooke W T & Thompson H (1967) American Journal of Medicine 42, 899 Hobbs J R (1971) Journal of Clinical Pathology 24, Suppi 5, p 146 Hodgson H J F, Davies R J, Gent A E & Hodson M E (1976) Lancet i, 115 Holmes G E T, Asquith P & Cooke W T (1972) Gut 13, 324 Kulczycki L L & Shwachman H (1958) New England Journal of Medicine 295, 409 Kupfer C A & Goligher J C (1970) British Journal of Surgery 57, 481 Loeb P M, Strober W, Falchuk Z M & Laster L (1971) Journal of Clinical Investigation 50, 559 Mann C V (1969) In: Diseases of the Colon, Rectum and Anus. Ed. B C Morson. Heinemann, London; p 238 Morgan C N, Porter N H & Klugman D J (1972) British Journal of Surgery 59, 841 Pettingale K W (1971) Gut 12, 291 Rubin W, Fauci A S, Sleisenger M H & Jeffries G H (1965) Journal of Clinical Investigation 44, 475 Strober W (1975) Annals of Internal Medicine 83, 242
529
Discussion This patient has the 'adult' form of polycystic disease, inherited as a mendelian dominant and said to be found in between 1:500 and 1 :1000 post-mortem examinations (Robbins 1962). Her hypertension and elevated plasma urea and creatinine are evidence of quite severe impairment of renal function although the patient remains asymptomatic from this point of view. As is usual in this condition, the hepatic lesion causes neither symptomatic nor biochemical abnormality. It is of interest that neither the patient's parents nor her two more elderly siblings had ever been diagnosed as suffering from renal disease, although both parents died from cerebrovascular accidents, and both siblings are receiving hypotensive therapy. The attacks of pain described by the patient were entirely consistent with 'biliary colic'. The gallbladder certainly contained several stones, and since its removal she has had no further pain. The reported attack of jaundice followed a period of such pain and almost certainly would have been caused by the passage of a calculus through the common bile duct. It would seem extremely unlikely that the degree of obstruction of the biliary tree caused by the hepatic cysts would itself produce jaundice. There was no biochemical evidence of biliary obstruction during the period of her investigation and treatment. Use of the fibreoptic choledochoscope has been fully described by Ashby (1976, 1977). In this case it not only allowed the rapid clarification of an unusual situation, but shortened recovery by allowing closure of the common bile duct without T-tube drainage. The case is of particular interest not only because of the apparent ability of small hepatic cysts to mimic the ERCP appearance of stones within the extrahepatic bile ducts, but because it is believed that the choledochoscopic findings in such a situation have not been described previously.
References Ashby B S (1976) Proceedings of the Royal Society of Medicine 69, 331 Ashby B S (1977) Hospital Update 3, 287 Robbins S L (1962) Textbook of Pathology. Saunders, Philadelphia & London; p 785
Asthma, rectal prolapse and malabsorption Alan E P Cameron MA BM (for A P Wyatt FRCS and W M Seymour MRCP) Brook General Hospital, London SE18 History E C, a woman aged 73, was first seen in 1974 with a two-day history of abdominal pain. For the preceding two years she had had intermittent attacks of diarrhoea during which she passed bulky, soft, offensive stools. She had been asthmatic since her early forties, and was helped by salbutamol inhalations, but had no other past history and took no other drug. There was a family history of atopy: the patient's mother had been asthmatic, and her daughter had severe hay-fever. On examination, the patient was thin and was slightly pigmented, but there was no significant abnormality. The abdominal pain settled on a low residue diet and, as a subsequent barium enema was normal, she was discharged from follow up. In 1975 the patient complained of more troublesome diarrhoea. Physical examination was again negative. It was thought that she might have diverticular disease. A high residue diet was advised, but the patient, confused by this complete reversal of previous treatment, did not change her food or reattend the clinic. A surgical domiciliary opinion was sought in 1977. The patient had developed a rectal prolapse and had become a social recluse. Her stools were always loose and bulky, she had lost weight, and had become more pigmented. On examination she was very thin indeed, had a distended abdomen with visible peristalsis, and had an 8 cm complete rectal prolapse. 0 1 41-0768/78/0071-0529/$O 1.00/0
(V') 1978 The Royal Society of Medicine
530
Journal of the Royal Society of Medicine Volume 71 July 1978
Investigations Peripheral blood: Haemoglobin 11.3 g/dl, mean corpuscular volume 103 fl; serum folate and red blood cell folate were normal; serum B12, 213 mg/l (range 300-900 mg/l); serum calcium, 2.07 mmol/l (range 2.15-2.60 mmol/l); immunoglobulins were normal; thyroid, gastric, smooth muscle, heart muscle and reticulin autoantibodies were negative, but antinuclear factor was positive. Gastrointestinalfunction: Small bowel meal (Figure 1) showed delay in passage of barium, with dilatation and an abnormal mucosal pattern. (A barium meal had been performed in 1971 at the request of the patient's general practitioner, and was normal.) Faecal fat excretion was
Figure 1. Small bowel meal
raised, 138.6 mmol of stearic acid in 5 days (normally 90 mmol). D-xylose excretion was reduced, only 11I% of a 5 g dose excreted after 2 hours (normally 14-34Oo) and only 22o% after 5 hours (normally 23-48oo). Stool culture was negative. Lung function: Forced expiratory volume in the first second, 0. 6 litres (expected 1.6 litres); Ventilatory capacity, 1.5 litres (expected 1.8 litres); peak expiratory flow rate, 1.8 1/mmn (expected 4.9 1/mmn). These figures improved slightly after isoprenaline. Skin testing- showed allergy to house dust and grass pollens. The patient refused a Crosby capsule small bowel biopsy. She was started on a therapeutic trial of a gluten-free diet. The response was dramatic, for the diarrhoea ceased and she has gained weight. She will be admitted shortly for Ivalon sponge repair of her prolapse if this does not resolve spontaneously. Discussion The length of history, the continuing response to gluten withdrawal, and the normal serum IgA are all against a diagnosis of intestinal lymphomatosis, so it seems reasonably certain that this patient has adult coeliac disease. There is probably a relationship between her coeliac disease and asthma, and between coeliac disease and the rectal prolapse.
Journal of the Royal Society of Medicine Volume 71 July 1978
531
The aetiology of coeliac disease is well established (Strober 1975). Rubin et al. (1965) showed that gliadin binds to the jejunal mucosa, and Loeb et al. (1971) found that when coeliac patients are challenged with gliadin, synthesis of specific IgA and IgM antibody occurs in the mucosa. Investigation of the humoral immune system in coeliac patients has revealed several abnormalities, although these may merely reflect the disease rather than be its cause. The normal preponderance of IgA-producing cells in the gut is reduced (Pettingale 1971), as is the response to ingested polio antigens (Beale et al. 1971). Serum IgA tends to be raised (Asquith et al. 1969), although conversely, Hobbs (1971) reported that frank IgA deficiency is twelve times commoner in coeliac patients than in the general population. There may also be disorders of cell-mediated immunity. Holmes et al. (1972) showed a reduced ability of lymphocytes to respond to phytohaemagglutinin stimulation. Interestingly, in patients with coeliac disease, the incidence of carcinoma of the oesophagus and of lymphoma of the small bowel are, respectively, 70 and 150 times the expected (Harris et al. 1967). These abnormalities may be linked to the presence of the HLA-B8 antigen, which is found in 88% of coeliac patients, but in 22% of control patients (Falchuk et al. 1972). There are many case reports of association between coeliac disease and extrinsic allergic alveolitis. Berrill et al. (1975) found that 31% of his patients with bird-fanciers lung had degrees of villous atrophy, and suggested that jejunal biopsy should be a routine investigation. Late onset asthma may be a disorder of general immunity, and it is therefore not surprising that a connection with coeliac disease exists. Hodgson et al. (1976) found a significant association between coeliac disease and a personal or family history of the atopic disorders asthma, hayfever and flexural eczema. Rectal prolapse is caused by 'mechanical' defects - perhaps a combination of laxity of supporting tissues and intussusception of the rectum. Alteration of bowel habit, whether chronic diarrhoea or chronic straining at stool, is an aggravating factor. Rectal prolapse in children is recognized as a consequence of cystic fibrosis. Kulczycki & Shwachman (1958) found that prolapse of the rectum had occurred by the age of 3 years in 20% of untreated children. Edwards & Truelove (1964) found that 1.3% of adults with ulcerative colitis developed rectal prolapse. Nevertheless, the large published series on surgical aspects of rectal prolapse make little mention of inflammatory bowel diseases as specific causes in adults (see Mann 1969, Kupfer & Goligher 1970, Morgan et al. 1972). This patient's untreated coeliac disease probably caused her rectal prolapse, but the prolapse was itself the symptom which finally led to the diagnosis. There do not appear to be other published reports of such a presentation.
References Asquith P, Thompson R A & Cooke W T (1969) Lancet ii, 129 Beale A J, Douglas A P, Parish W E & Hobbs J R (1971) Lancet i, 1189 Berrili W T, Eade 0 E, Fitzpatrick P F, Hyde 1, MacLeod W M & Wright R (1975) Lancet ii, 1006 Edwards F C & Truelove S C (1964) Gut 5, 1 Falchuk Z M, Rogentine G N & Strober W (1972) Journal of Clinical Investigation 51, 1602 Harris 0 D, Cooke W T & Thompson H (1967) American Journal of Medicine 42, 899 Hobbs J R (1971) Journal of Clinical Pathology 24, Suppi 5, p 146 Hodgson H J F, Davies R J, Gent A E & Hodson M E (1976) Lancet i, 115 Holmes G E T, Asquith P & Cooke W T (1972) Gut 13, 324 Kulczycki L L & Shwachman H (1958) New England Journal of Medicine 295, 409 Kupfer C A & Goligher J C (1970) British Journal of Surgery 57, 481 Loeb P M, Strober W, Falchuk Z M & Laster L (1971) Journal of Clinical Investigation 50, 559 Mann C V (1969) In: Diseases of the Colon, Rectum and Anus. Ed. B C Morson. Heinemann, London; p 238 Morgan C N, Porter N H & Klugman D J (1972) British Journal of Surgery 59, 841 Pettingale K W (1971) Gut 12, 291 Rubin W, Fauci A S, Sleisenger M H & Jeffries G H (1965) Journal of Clinical Investigation 44, 475 Strober W (1975) Annals of Internal Medicine 83, 242
![[Rectal prolapse].](/assets/img/hold.png)
