PubMed Health⌕ Search

Biomedical subjects

Marios Hadjivassiliou

Publications and source records attributed to Marios Hadjivassiliou.

12 recordsLinked to original sources
PubMed2007

Myopathy associated with gluten sensitivity.

Ataxia and peripheral neuropathy are the most common neurological manifestations of gluten sensitivity. Myopathy is a less common and poorly characterized additional neurological manifestation of gluten sensitivity. We present our experience with 13 patients who presented with symptoms and signs suggestive of a myopathy and in whom investigation led to the diagnosis of gluten sensitivity. Three of these patients had a neuropathy with or without ataxia in addition to the myopathy. The mean age at onset of the myopathic symptoms was 54 years. Ten patients had neurophysiological evidence of myopathy. Inflammatory myopathy was the most common finding on neuropathological examination. One patient had basophilic rimmed vacuoles suggestive of inclusion-body myositis. Six patients received immunosuppressive treatment in addition to starting on a gluten-free diet; five improved and one remained unchanged. Among seven patients not on immunosuppressive treatment, four showed clinical improvement of the myopathy with a gluten-free diet. The improvement was also associated with reduction or normalization of serum creatine kinase level. The myopathy progressed in one patient who refused the gluten-free diet. Myopathy may be another manifestation of gluten sensitivity and is likely to have an immune-mediated pathogenesis. A gluten-free diet may be a useful therapeutic intervention.

Adolescent↗
PubMed2006

Detection of anti-brain serum antibodies using a semi-quantitative immunohistological method.

The number of autoimmune disorders that may involve the nervous system is increasing. The diagnosis of neurological involvement in the context of systemic diseases may be helped by the detection of autoantibodies reacting against neural autoantigens. If the autoantigen is not known but the target tissue is suspected, immunohistochemistry is one of the main techniques used to certify the presence of autoantibodies. Autoreactive antibodies are also present in the healthy population but in low quantity compared to patients with such diseases. Quantification of such autoantibodies could help to discriminate between disease and healthy states. We have developed a densitometric immunohistological method for the evaluation of human serum anti-neural reactivity. Using a densitometric analysis of rat brain sections incubated with the serum from 107 healthy subjects, we have defined the baseline of natural anti-neural autoreactivity, and the cut-off for subsequent quantification of anti-neural reactivity in patients with neurological involvement in the context of autoimmune diseases, including systemic lupus erythematosus, paraneoplastic cerebellar degeneration, and stiff person syndrome. The test sensitivity was 81% with a positive predictive value of 52%, a specificity of 89% with a negative predictive value as high as 97%. In conclusion, this standardised semi-quantitative procedure makes immunohistochemistry a reliable diagnostic test for autoimmune neuropathologies and represents an excellent exclusion test for anti-neural autoimmunity.

Animals↗
PubMed2006

Dietary treatment of gluten neuropathy.

We studied the effect of a gluten-free diet in patients with idiopathic sensorimotor axonal neuropathy and circulating antigliadin antibodies. Consecutive patients underwent baseline neurophysiological assessment and were offered a gluten-free diet. Those who went on the diet formed the intention-to-treat group and those who did not were the control group. Repeat neurophysiological assessment and subjective evaluation of neuropathy symptoms were performed at 1 year. A total of 35 patients participated in the study, with 25 patients going on the diet and 10 not doing so. There was a significant difference in the change of sural sensory action potentials (pre-defined primary endpoint), with evidence of improvement in the intention-to-treat group and deterioration in the control group. Subjective change in neuropathy symptoms also showed significant differences, with patients in the intention-to-treat group reporting improvement and those in the control group reporting deterioration. Gluten-free diet may thus be a useful therapeutic intervention for patients with gluten neuropathy.

Aged↗
PubMed2005

Are lower gastrointestinal investigations necessary in patients with coeliac disease?

BACKGROUND: Colonoscopy may be indicated in patients with coeliac disease who present with iron deficiency anaemia or in coeliac disease patients who have persisting diarrhoea despite being on a gluten-free diet. However, there are limited data to support this approach. METHODS: We prospectively recruited patients who were found to have coeliac disease, having been referred with newly diagnosed iron deficiency anaemia. We also recruited a second group of patients with known coeliac disease. These patients had persisting diarrhoea despite being on a gluten-free diet for 6 months. All patients had colonoscopy and were matched with controls (without coeliac disease) who had similar indications for colonoscopy. RESULTS: Ninety-eight consecutive new patients with coeliac disease and concurrent iron deficiency anaemia had colonoscopy performed. Twelve (12.2%) had pathology, three of which were carcinomas. This diagnostic yield was not significantly different from the findings in the control group 62/362 (17.1%) P=0.24. In coeliac disease patients with persisting diarrhoea (n=37), the diagnostic yield at colonoscopy was 1/37 (2.7%). This was significantly lower than our findings in the control group with chronic diarrhoea 55/390 (14%) P=0.05. CONCLUSION: Colonoscopy should be considered in patients with coeliac disease (over the age of 45 years) who present with iron deficiency anaemia. Whilst, for coeliac disease patients with persisting diarrhoea (on a gluten-free diet) in the absence of sinister symptoms, a flexible sigmoidoscopy may be the initial investigation in order to exclude microscopic colitis. However, further larger prospective studies are required to evaluate this approach.

Adolescent↗
PubMed2004

Choreic syndrome and coeliac disease: a hitherto unrecognised association.

Coeliac disease has been associated with a variety of neurological conditions, most frequently cerebellar ataxia and peripheral neuropathy. To date, chorea has not been associated with coeliac disease. We present the case histories of 4 individuals with coeliac disease and chorea (4 women, average age of onset of chorea 61 years). Unexpectedly, most of these patients showed a notable improvement in their motor symptoms after the introduction of a gluten-free diet.

Aged↗
PubMed2004

Making the diagnosis of coeliac disease: is there a role for push enteroscopy?

BACKGROUND: Push enteroscopy is used in the assessment of refractory coeliac disease. However, its value in making the diagnosis of coeliac disease is still not defined. METHODS: Thirty-one patients (22 females, nine males) were recruited prospectively between September 2001 and October 2002; the age range was 20-80 years (mean age, 52.7 years). All patients had symptoms suggestive of coeliac disease and positive serology but duodenal biopsy was not diagnostic. Twenty-three patients had positive IgA or/and IgG antigliadin antibodies, eight patients had positive endomysial antibodies (EMA). All patients underwent enteroscopy with repeat quadrantic duodenal and additional jejunal biopsies. RESULTS: All samples were reviewed by a single, blinded, histopathologist. There were no cases of coeliac disease diagnosed on further biopsy in patients who had a positive gliadin antibody in isolation. In the eight EMA-positive cases repeat biopsy demonstrated coeliac disease in five patients. In 3/5 cases the changes were confined to the jejunal biopsies only. CONCLUSION: EMA-positive patients with initially normal histology should have a further duodenal biopsy. In our series three of the five newly diagnosed coeliac disease patients only had villous atrophy demonstrable in the jejunum. There may be a role for push enteroscopy in making the diagnosis of coeliac disease. However, further prospective studies are needed.

Adult↗
PubMed2003

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics.

We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may account for a large number of patients with sporadic idiopathic ataxia. We have therefore investigated the prevalence of gluten sensitivity amongst a large cohort of patients with sporadic and familial ataxia and looked at possible genetic predisposition to gluten sensitivity amongst these groups. Two hundred and twenty-four patients with various causes of ataxia from North Trent (59 familial and/or positive testing for spinocerebellar ataxias 1, 2, 3, 6 and 7, and Friedreich's ataxia, 132 sporadic idiopathic and 33 clinically probable cerebellar variant of multiple system atrophy MSA-C) and 44 patients with sporadic idiopathic ataxia from The Institute of Neurology, London, were screened for the presence of antigliadin antibodies. A total of 1200 volunteers were screened as normal controls. The prevalence of antigliadin antibodies in the familial group was eight out of 59 (14%), 54 out of 132 (41%) in the sporadic idiopathic group, five out of 33 (15%) in the MSA-C group and 149 out of 1200 (12%) in the normal controls. The prevalence in the sporadic idiopathic group from London was 14 out of 44 (32%). The difference in prevalence between the idiopathic sporadic groups and the other groups was highly significant (P < 0.0001 and P < 0.003, respectively). The clinical characteristics of 68 patients with gluten ataxia were as follows: the mean age at onset of the ataxia was 48 years (range 14-81 years) with a mean duration of the ataxia of 9.7 years (range 1-40 years). Ocular signs were observed in 84% and dysarthria in 66%. Upper limb ataxia was evident in 75%, lower limb ataxia in 90% and gait ataxia in 100% of patients. Gastrointestinal symptoms were present in only 13%. MRI revealed atrophy of the cerebellum in 79% and white matter hyperintensities in 19%. Forty-five percent of patients had neurophysiological evidence of a sensorimotor axonal neuropathy. Gluten-sensitive enteropathy was found in 24%. HLA DQ2 was present in 72% of patients. Gluten ataxia is therefore the single most common cause of sporadic idiopathic ataxia. Antigliadin antibody testing is essential at first presentation of patients with sporadic ataxia.

Adolescent↗
PubMed2003

A primary care cross-sectional study of undiagnosed adult coeliac disease.

OBJECTIVES: To establish the prevalence of coeliac disease in the general population and in specific conditions, such as irritable bowel syndrome, iron deficiency anaemia, fatigue and other coeliac-related conditions. METHODS: Primary-care-based cross-sectional study using immunoglobulins, IgA/IgG antigliadin antibodies and endomysial antibodies to initially recognize coeliac disease. A total of 1200 volunteers were recruited from January 1999 to June 2001 from five general practices in South Yorkshire, UK. Any participant with a positive IgA antigliadin antibody, positive endomysial antibody, or only IgG antigliadin antibody in the presence of IgA deficiency was offered a small-bowel biopsy to confirm the diagnosis of coeliac disease. RESULTS: Twelve new cases of coeliac disease were diagnosed from 1200 samples. The prevalence of coeliac disease in this primary care population sample is 1% (95% CI 0.4-1.3%). The prevalence of coeliac disease was 3.3% (4/123) in participants with irritable bowel syndrome, 4.7% (3/64) in participants with iron deficiency anaemia, and 3.3% (3/92) in participants with fatigue. CONCLUSIONS: This study describes the prevalence of undiagnosed adult coeliac disease in primary care patients with irritable bowel syndrome, iron deficiency anaemia and fatigue. Underdiagnosis of coeliac disease is common in primary care. A case-finding approach would avoid delays in diagnosis and the associated morbidity or potential complications of coeliac disease. A low threshold for serological screening of patients with coeliac-associated symptoms or conditions would be an optimal strategy.

Adult↗