C. F. McCarthy

Precipitation of iron overload and hereditary hemochromatosis after successful treatment of celiac disease

Hepatic and bile duct involvement are common in sickle cell disease. This article reports the case of a young woman with cholangiopathy, homozygous sickle cell disease, and protracted anemia. We suggest that sickle cell disease was directly responsible for ischemic cholangiopathy through anoxia. (Am J Gastroenterol 2000;95:300–301.

Lung cavities in patients with coeliac disease.

The clinical, radiological and pathological features of 7 patients with coeliac disease (CD) who developed lung abscesses or cavities are described. These patients were seen during a 20-year period during which time approximately 600 coeliacs were seen and 50 died. Six of the coeliac patients with lung abscess died. The patients were middle aged. Staphylococcal infection, Klebsiella pneumoniae, bronchial carcinoma and previous pulmonary tuberculosis accounted for the cavities in 4 patients. In the 3 other patients a definite cause could not be identified. Hyposplenism and malnutrition were common. Next to malignancy pulmonary abscess was the commonest cause of death in the coeliac population. The development of respiratory symptoms should be regarded as a potentially serious and a life-threatening event in the middle-aged coeliac patients. Lung abscess should be added to the list of respiratory diseases associated with coeliac disease.

Addison's Disease and Selective IgA Deficiency in Two Coeliac Patients

Coeliac disease is associated with selective IgA deficiency and various autoimmune disorders. An association between Addisons disease and coeliac disease has been documented previously in the literature but never heretofore in coeliac patients with selective IgA deficiency. From a coeliac registry of over 700 biopsy-proven coeliac patients, studied closely over a 25-year period at University College Hospital, Galway, we now report the finding of Addisons disease and selective IgA deficiency in two patients with established coeliac disease. Previous reports of Addisons disease in coeliac patients were sporadic, and it was felt that the association between the two conditions was fortuitous. We now believe that coeliac patients, especially those who are selectively deficient in serum IgA, should be followed up with increased vigilance, as the association between IgA-deficient coeliac patients and Addisons disease is greater than can be explained by chance. Furthermore, we suggest that patients with established Addisons disease may have subclinical coeliac disease and should be screened with anti-reticulin or anti-endomyseal antibodies.

Secretor Status and Human Leucocyte Antigens in Coeliac Disease

BACKGROUNDnThe ability to secrete blood group antigens into body fluids and secretions is controlled by a single gene on chromosome 19. By means of erythrocyte Lewis (Le) antigen phenotype secretor status can be inferred. An increase prevalence of non-secretors of blood group antigens among coeliac patients has recently been described.nnnMETHODSnBlood was collected from 112 coeliac patients and 103 controls and tested for secretor status. Secretor status was correlated with human leucocyte antigens (HLA) in coeliac patients, thus evaluating a proposed interaction of susceptibility genes--that is, the secretor gene on chromosome 19 and HLA-linked genes on chromosome 6. Case notes for coeliacs were reviewed with regard to clinical outcome.nnnRESULTSnOf 112 coeliacs who had either Le(a) or Le(b) antigens, 36 (32%) were non-secretors Le(a+, b-), compared with 27% (28) of 103 disease-free controls (P = 0.313). Recessive Lewis phenotype Le(a-, b-) was found in 9% of coeliacs versus 2% of controls. Prevalence of HLA-A1, B8, DR3, and DQ2 was unrelated to secretor status in coeliac versus patients. An increased prevalence of complications and coeliac-associated abnormalities was found in the non-secreting and recessive coeliac groups.nnnCONCLUSIONSnThis study shows no firm relationship between the non-secretor state and coeliac disease, nor any difference in the distribution of HLA markers among secretor and non-secretor coeliacs. It is unlikely, therefore, that the secretor gene is the much sought-after second coeliac gene.

Brown Bowel Syndrome Occurring in Coeliac Disease in the West of Ireland

Brown bowel syndrome is the name applied to a brown discoloration of the intestine. This is due to lipofuscin deposition in intestinal smooth muscle and occurs in association with malabsorption. Three cases occurring in a coeliac registry of 559 patients are described. One patient presented with acute massive bleeding per rectum, and two were diagnosed at autopsy. The syndrome may be accompanied by vitamin E deficiency and neurologic dysfunction. Two patients had evidence of peripheral neuropathy, and one had low vitamin E levels. Concomitant vitamin D deficiency was present. Fat-soluble vitamin malabsorption, especially if there is a poor response to a gluten-free diet or neuropathy, might alert the clinician to the possibility of brown-bowel syndrome and suggests careful search for lipofuscin in biopsy material, using special histologic techniques.

Salivary SIgA and SIgA 1 in coeliac disease, inflammatory bowel disease and controls

Levels of secretory IgA1 (SIgA1) in the saliva have not been measured previously in either coeliac disease (CD) or inflammatory bowel disease (IBD). Saliva was collected from coeliacs, IBD patients and controls. The concentration of total SIgA in saliva was measured by enzyme linked immunosorbent assay (ELISA) with an anti-human SIgA antibody as the bound phase and human SIgA isolated from colostrum as the standard. The concentration of SIgA1 was determined using an ELISA with a lectin with a high affinity for human SIgA1. The IBD patients have a significantly higher concentration of SIgA1 than the controls. The rate of secretion of saliva and %SIgA1 was significantly lower in coeliacs than in the control and IBD groups. The rate of secretion of SIgA1 was significantly higher in the IBD than in the coeliacs. We describe hitherto unreported levels of SIgA1 in CD and IBD.

Alpha 1-antitrypsin phenotypes in coeliac patients and a control population in the west of Ireland.

Abstractα1-antitrypsin or protease inhibitor (Pi) phenotyping was carried out on 111 coeliac disease patients (CD) and 250 controls. The Pi MM phenotype was present in 95 (85.6 %) of the coeliacs and 225 (90%) of the controls. The groups did not differ significantly with regard to Pi phenotypes. In the CD group the Pi Phenotype did not relate to HLA B8 or DR3 status. Associated diseases in the CD patients did not correlate with Pi phenotype.

Factors in the Epidemiology of Coeliac Disease in the West of Ireland

The high prevalence of coeliac disease in children in the West of Ireland previously reported is confirmed by recent studies (Figure 2.1)1–3. When the number of coeliac births is compared with the total number of births over the period 1960–78, 1 coeliac, presenting in childhood, is born per 555 births in families domiciled in County Galway. So far, no child born in County Galway in 1964 has developed symptoms leading to the diagnosis of coeliac disease. However, to date 17 children born in 1972 have been diagnosed. A reliable estimate of The Genetics of Coeliac Disease the frequency of childhood coeliac disease for the years 1960–78 can be made as during that period the Regional Hospital, Galway (RHG) was the only referral centre for the paediatric patients from County Galway.

GM TYPING OF IRISH COELIAC PATIENTS AND CONTROLS DOES NOT HELP LOCATE THE SECOND COELIAC GENE

A two gene model has been proposed to explain the inheritance of coeliac disease (CD). One gene is on chromosome 6 in the MHC complex (HLA associated). It has been suggested the second gene is located on chromosome 14, in or near the region encoding for immunoglobulin heavy chain allotypes (Gm types). In a study of 102 unrelated Irish coeliacs and a group of ethnic controls, we have failed to show an association of CD with any particular Gm type or types. There is no evidence to confirm that a gene on chromosome 14 is implicated in the inheritance of CD.

HLA types in liver disease in the West of Ireland.

SummaryThe frequency with which certain HLA types occur was determined in 47 patients with alcoholic liver disease and 20 patients with chronic active hepatitis (C.A.H.). These were compared with a control group of 105 healthy subjects. An increased incidence of HLA-A3, B5 and B40 were found in alcoholic cirrrhosis, but the results were not statistically significant. HLA-A28 and B17 were absent in the alcoholic cirrhotic group. The incidence of HLA-B8 was reduced, but not significantly, in the alcoholic cirrhotic group. Of the patients with C.A.H., HLA-B8 was increased, but failed to reach statistical significance.