Antiendomysium antibodies assay in the culture medium of intestinal mucosa: an accurate method for celiac disease diagnosis.

BACKGROUND: Celiac disease (CD) diagnosis is becoming more difficult as patients with no intestinal histology lesions may also be suffering from CD. AIM: To evaluate the diagnostic accuracy of antiendomysium (EmA) assay in the culture medium of intestinal biopsies for CD diagnosis. PATIENTS AND METHODS: The clinical charts of 418 patients with CD and 705 non-CD controls who had all undergone EmA assay in the culture medium were reviewed. RESULTS: EmA assay in the culture medium had a higher sensitivity (98 vs. 80%) and specificity (99 vs. 95%) than serum EmA/antibodies to tissue transglutaminase (anti-tTG) assay. All patients with CD who were tested as false-negatives for serum EmA and/or anti-tTG (32 adults and 39 children) carried the human leukocyte antigen alleles associated to CD. Furthermore, during the follow-up, four patients with negative-serum EmA/anti-tTG, normal villi architecture, and positive-EmAs in the culture medium, developed villous atrophy and underwent gluten-free diet with consequent resolution of the symptoms and complete intestinal histology recovery. CONCLUSION: EmA assay in the culture medium should be included in the diagnostic criteria for CD diagnosis in 'seronegative' patients.

[Iron overload disease: recent findings]. / Patologie da sovraccarico di ferro: recenti acquisizioni.

Iron overload diseases are due to a progressive increase in total body iron stores that leads to deposition of iron in parenchymal organs and to subsequent damage to these organs. The commonest inherited form of iron overload is hereditary hemochromatosis (HH), an autosomal recessive disorder affecting the white population. Although in the western world and in northern Europe the majority of cases of HH are associated with an HFE gene mutation (C282Y and H63D), there are families with a familial iron overload disorder in whom neither the C282Y nor the H63D mutations were found. Recently, other forms of HH that are not related to HFE, but are due to mutations in genes coding iron transport proteins (ferroportin-1, TfR2, hepcidin) have been described. The clinical presentation of the disorder is highly variable, depending on the severity of iron overload. In fact, the inappropriate absorption and deposition of dietary iron may result in the development of hepatic and non-hepatic end-organ injury, leading to liver cirrhosis, hepatocellular carcinoma, diabetes, arthritis, skin pigmentation and cardiac diseases. HH and its sequelae are preventable with an early diagnosis and treatment. Patients with evidence of iron overload, a family history of HH or other risk factors should be screened by genotype testing for the HFE mutation. Nowadays, HH is recognized as being a complex genetic disease with probable significant environmental and genetic modifying factors, such as hepatitis C virus infection and alcohol abuse, and it has been shown that HFE mutations represent an independent risk factor for fibrosis and cirrhosis in chronic hepatitis C.