Coeliac disease

In coeliac disease there is an abnormality of the intestinal mucosa which is caused by ingesting gluten. The intestinal lesion affects predominantly the proximal small intestine and the ileum is either normal or less severely involved than the jejunum. In some cases adaptive changes occur in the ileum, producing enhanced absorption in that region when there is malabsorption in the jejunum. The characteristic absorptive abnormality in coeliac disease is therefore jejunal malabsorption and ileal hyperabsorption. When such a situitation develops it is possible that an indivisual with a flat jejunal mucosa may develop no symptoms of the disease, since the adaptive changes in the ileum compensate for the jejunal lesion. This may explain why in Western society there are probably more cases of coeliac disease undiagnosed in the community that have been treated by their doctors. The basic lesion in coeliac disease appears to be genetically determined and it is likely to be a failure to clear antigen which normally enters the lamina propria of the gut resulting in the formation of immune complexes with complement fixation at gut level.     

Coeliac disease presenting with intraperitoneal haemorrhage

A 42-year-old man, who was previously fit and well, presented in haemorrhagic shock due to a spontaneous left mesocolonic haematoma and intraperitoneal bleed. His INR was noted to be raised on admission. Later investigations showed him to have villous atrophy on biopsy of the second part of his duodenum and a positive anti-reticulin antibody. His duodenal biopsy and INR normalized on a gluten-free diet. Coeliac disease may present with a single vitamin deficiency with potentially catastrophic results.     

Coeliac disease in old age: ''a catch in the rye''

We report a rare case of a patient with ileus due to Strongyloides infection that occurred four times within a six-month period. The ileus was improved by treatment with ivermectin and there has not been a recurrence of the symptoms within the last two years.     

Coeliac disease in Galway, Ireland 1971-1990

Recent studies have reported changes in the incidence of coeliac disease and in its presentation. We carried out a retrospective study looking at the incidence and clinical features of coeliac disease in Galway children over a 20 year period. The study period was divided in two parts. (I) Patients diagnosed between 1971 and 1980 and (II) between 1981 and 1990. Comparison was made between demographic and clinical data in these two periods. There were 97 cases of coeliac disease diagnosed in children resident in Galway over the 20 year period. 71 patients were diagnosed in period I and 26 in period II. The median age at diagnosis in period I was 1.41 years and 4.95 years in period II. There were more females diagnosed in period I. Growth data, histology and enzyme levels were similar in both groups. Diarrhoea and vomiting were the major presenting symptoms in both periods but more patients presented with wasting or abdominal protuberance in the latter period. Our data support the concept that coeliac disease in childhood is declining, and is presenting at a later age.     

Coeliac disease in primary care: case finding study

OBJECTIVES: To provide evidence of underdiagnosis of coeliac disease and to describe the main presenting symptoms of coeliac disease in primary care. DESIGN: Case finding in a primary care setting by testing for coeliac disease by using the endomysial antibody test. SETTING: Nine surgeries in and around a market town in central England, serving a population of 70 000. PARTICIPANTS: First 1000 patients screened from October 1996 to October 1997. OUTCOME MEASURES: Determination of endomysial antibody titre of patients fulfilling the study criteria, followed by small intestine biopsy of those with positive results. RESULTS: The 30 patients (out of 1000 samples) with positive results on the endomysial antibody test all had histological confirmation on small intestine biopsy. The commonest mode of presentation (15/30) was anaemia of varying severity. Most patients (25/30) presented with non-gastrointestinal symptoms. Specificity of the endomysial antibody test was 30/30. CONCLUSIONS: Underdiagnosis and misdiagnosis of coeliac disease are common in general practice and often result in protracted and unnecessary morbidity. Serological screening in primary care will uncover a large proportion of patients with this condition and should be made widely available and publicised. Coeliac disease should be considered in patients who have anaemia or are tired all the time, especially when there is a family history of the disease.     

Surgery for congenital heart disease in the adult

The present experiments were conducted on isolated dog hearts to demonstrate that conduction disturbances can be induced in the bundle branches by transection of about 50 per cent of the cross-sectional area of the His bundle on the right or left side. The His bundle, the posterior and anterior divisions of left bundle, and the right bundle were exposed by careful dissection, and microelectrode techniques were used to record action potentials from the three bundle branches. Pacing stimuli were applied to the nonbranching portion of His bundle proximal and then distal to the site of transection to study the effect of such lesions on impulse conduction to the bundle branches. It was demonstrated that conduction to the bundle branches was not affected by such lesions in the His bundle at pacing rates slower than 100 per minute; however, conduction disturbances were rate-dependent and manifested at faster pacing rates. In nine out of all 16 experiments, partial or complete block occurred in all three bundle branches regardless of the side of the lesion. In the remaining seven experiments, they were observed in the bundle branch on the same side as the lesion. It was assumed that conduction disturbances of the bilateral bundle branches resulted from decremental conduction in the uncut portion of His at the level of lesion, and those of the ipsilateral branch from the functional failure of transverse crossover connections between the longitudinal His bundle fibers. The results indicate that localized lesions in the nonbranching portion of His bundle can indeed produce the pattern of bundle branch block under certain conditions.     

Liver transplant in adult Still's disease

Adult Still's disease (ASD) is an uncommon form of polyarthritis associated with numerous systemic manifestations, including hepatic involvement. Rarely, liver involvement can be fatal. We describe the case of a young man with ASD with terminal liver failure who required a life saving liver transplant.     

Zonal adult Hirschsprung's disease

BACKGROUND: Hirschsprung's disease is a congenital disorder which is rare in adulthood. In typical cases the aganglionosis involves mainly the rectum or rectosigmoid colon and the lesion starts from the anal valve. Zonal segmental aganglionosis is a very rare type even in children. PATIENT: A 54 year old women with zonal segmental aganglionosis had an aganglionic segment 18 cm in length located in the rectosigmoid colon with an 8 cm long normal appearing rectum and dilated proximal colon. Resection of the stenotic segment with end to end anastomosis was performed. CONCLUSION: The functional result was excellent five years after the operation.     

Thrombotic thrombocytopenic purpura in adult Still''s disease

Chronic fatigue syndrome (CFS) is often preceded by a viral illness and has recurrent "flu-like" symptoms. We compared demographic, clinical, and laboratory features (markers of inflammation and viral infection) among 717 patients with chronic fatigue (CF) with and without a self-reported postinfectious onset to identify associated clinical and biologic findings and to examine the subset of patients with CFS. Only subjective fever, chills, sore throat, lymphadenopathy, poorer functional status, and attribution of illness to a physical condition were significantly associated with a postinfectious onset. The features of patients with CFS were virtually identical to those of the broader category of patients with CF. We conclude that a postinfectious onset was not associated with a pattern of abnormalities across multiple psychosocial and biologic parameters.     

Insulin resistance in adult polycystic kidney disease

Adult polycystic kidney disease (APKD) is a common hereditary disease with renal and extra-renal manifestations. There are at least three genes responsible for this disease. The polycystic kidney disease 1 (PKD1) gene product is a membrane protein involved in cell-cell and cell-matrix interactions and has a widespread tissue distribution. Abnormal membrane fluidity in erythrocytes from APKD patients is due to altered membrane proteins. Membrane fluidity of mononuclear cells is related to whole body insulin sensitivity. Insulin sensitivity might therefore be disturbed in APKD if the erythrocyte membrane abnormality is also present in other cells. Therefore, we investigated insulin sensitivity in 15 APKD patients and 20 normal subjects matched for age and sex. Insulin sensitivity was assessed by a short insulin tolerance test to derive the first-order rate constant for the disappearance of glucose (Kitt) and mononuclear leukocyte membrane fluidity was measured by fluorescence anisotropy. The Kitt value (% mmol.liter-1.min-1) was lower in APKD patients than in normal subjects [median (range) 2.2 (1.5 to 6.3) vs. 4.1 (2.0 to 5.4). P < 0.001]. Fasting plasma insulin concentrations were negatively correlated with the Kitt values (r = -0.66, P < 0.001). Core region anisotropy was significantly lower (higher fluidity) in leukocytes from APKD patients [mean (SEM) 0.164 (0.003) vs. 0.174 (0.001), P < 0.001]. Insulin sensitivity was positively correlated with the fluorescence anisotropy of the core region of leukocyte membranes (r = 0.81, P = 0.0001). In conclusion, APKD patients were insulin resistant and some patients were hyperinsulinemic, which may indicate increased cardiovascular risk. The cellular basis of the insulin resistance may be directly related to the proteins causing the disease or to the general change in membrane properties.     

Recurrent sinopulmonary disease in a young adult

In 50 patients aged 60 +/- 4 operated for colorectal carcinoma simultaneous combined radionuclide phlebography (RNP) and pulmonary perfusion scintigraphy (PPS) using 99Tcm labeled macroaggregates of the human serum albumin (MAHSA) were performed within 20 postoperative days aiming to detect deep vein thrombosis (DVT) and pulmonary thromboembolism (PTE). The aim of the study was to determine the incidence and segmental DVT localization as well as incidence, localization and clinical characteristics of developed pulmonary perfusion disorders. Deep vein thrombosis was detected in 33 (66%) patients with rather uniform distribution in vein segments. According to their scintigraphic characteristics the findings suggested recent thrombosis in almost all cases (only two of them had signs of chronic thrombosis). Of patients with detected DVT 17 (52%) had pulmonary perfusion disorders of which 10 (59%) were unilateral (7 right and 3 left) and 7 (42%) bilateral. Characteristics and extent of perfusion defects suggested very probable PTE in 11 (65%) patients and less probable in 6 (35%). It has been concluded that patients operated for colorectal carcinoma were highly exposed to DVT and PTE development which necessitates all measures contributing to their prevention.     

Sudden cardiac death in the adult with congenital heart disease

Preliminary results of a review of sudden cardiac death in the adult with congenital heart disease were presented at the Canadian Adult Congenital Heart (CACH) Network meeting during the Canadian Cardiovascular Society's annual meeting in October 1994. Of 125 patients who were known to have died, sufficient details were available for 92 to determine the circumstance of death. Sudden death occurred in 23 patients (estimated incidence 5.3 per 1000 patients followed per year) at an average age of 33.5 +/- 11.9 years. Surgical procedures included intracardiac repair in 12, palliative procedures in only six and no cardiac surgery in six. Nine patients with sudden death had Eisenmenger syndrome. Right or left ventricular abnormalities were present in 15 of 21 patients with premorbid echocardiographic evaluation. A prior history of ventricular arrhythmia was available in only three patients. Sudden death is a significant cause of mortality in adults with congenital heart disease. Determination of risk factors will be an important aspect of the patient database under development by the CACH Network.     

Coeliac disease: frequent occurrence after clinical onset of insulin-dependent diabetes mellitus. Childhood Diabetes in Finland Study Group

Coeliac disease was searched for in a series of 776 children with newly diagnosed IDDM. During the follow-up of 2 to 3 years from diagnosis, reticulin and gliadin antibodies were measured, and a jejunal biopsy was performed in those cases with high levels of antibodies; 19 children were identified with coeliac disease, giving the prevalence of 2.4%. In only one case had coeliac disease been diagnosed before IDDM. Nine patients with proven coeliac disease were negative for antibodies when IDDM was diagnosed, but became positive within 24 months. All patients found to have coeliac disease were positive for IgA reticulin antibodies, but only 12 of 18 (67%) showed a high level of IgA gliadin antibodies. Of the 18 patients genotyped for HLA DR locus, 14 (78%) were positive for DR3 and 10 (56%) were positive for DR4. DQB1*0201 allele was present in 17 of 18 patients (94%). Coeliac disease in children with IDDM tends to develop soon after diabetes is diagnosed. Routine screening for coeliac disease is recommended repeatedly during the first years after the diagnosis of IDDM.     

The importance of hypergastrinemia in the diagnosis of Biermer''s disease in the adult

Thirty-three patients were selected for laparoscopic hysterectomy and operated on in the Department of Obstetrics, Gynecology and Reproductive Medicine of Clermont-Ferrand University Hospital. Surgical techniques included blunt dissection with scissors and bipolar coagulation to achieve hemostasis. A case was considered successful when all the uterine vessels were treated by laparoscopy. Twenty-four cases were completed laparoscopically (72.7%). None of these patients had postoperative bleeding; 22 had an uneventful postoperative recovery. Nine procedures were converted to laparotomy (27.3%), five because of a difficult or unsatisfactory hemostasis. We conclude that in selected cases, a total hysterectomy can be performed safely by experienced laparoscopists. Further technological progress is necessary to make this procedure more acceptable. Its value as compared to the others will have to be demonstrated.     

Seminal vesicle cysts in the patients with adult polycystic kidney disease

Hemifacial spasm features myoclonic-like, paroxysmal, unilateral muscle twitching, attributable to vascular compression at the facial pontine root entry zone. We present the case of an 85-year-old man who presented with idiopathic hemifacial spasm with onset 23 years before. For the last 5 years, he was successfully treated with botulinum toxin injections. However, occasional nitrate intake for precordial pain promptly triggered muscle twitching. Vasodilation may exacerbate not only cases of hemifacial spasm, but even of trigeminal neuralgia, both recognized as neurovascular compressive syndromes.     

Renal disease in an adult patient with type I glycogen storage disease

A 26-year-old Chinese male patient with type I glycogen storage disease presented with chronic renal disease, proteinuria, and urolithiasis. On renal biopsy, focal glomerular sclerosis, increased mesangial matrix and cellularity, interstitial fibrosis, tubular atrophy, and prominent arteriosclerosis were observed. Immunofluorescence microscopy revealed Ig A deposits predominantly in the glomerular mesangium. The possible mechanisms of renal involvement in glycogen storage disease are briefly discussed.     

Modified Le Fort III osteotomy in adult Crouzon disease

The authors present a unique case of a woman with Crouzon disease who was treated for symptomatic exorbitism with a modified Le Fort III osteotomy. Midface advancement with reduction of exorbitism was accomplished without intermaxillary fixation. The technical details are described.     

Phenotyping of peripheral blood lymphocytes in adult coeliac disease

OBJECTIVE: To evaluate nerve fiber density in vestibular specimens from women operated upon for vulvar vestibulitis. METHODS: Forty-seven women with vulvar vestibulitis syndrome underwent modified posterior vestibulectomies. Vestibular specimens were analyzed after being stained for S-100 neural tissue protein. Women were followed up for 2 years. RESULTS: In specimens from 44 of 47 patients, the densities and numbers of nerve fibers per square unit in the preparations were greater than those in specimens from six control women. In the patients, a statistically significant linear correlation was found between inflammation and nerve bundle density in the preparations (Spearman rank correlation coefficient rs=.41; P=.005). There were no signs of infectious etiology in any preparation. No or slight postoperative dyspareunia was reported by 38 of 42 women after 6 months, 36 of 39 after 12 months, and 26 of 28 after 24 months. CONCLUSION: Vestibular neural hyperplasia may provide a morphologic explanation of the pain in vulvar vestibulitis syndrome.