[Higher incidence of thyropathy in patients with oesophageal achalasia. Genetic, autoimmune, regional or just a random association?].
ABSTRACT The etiology of esophageal achalasia is still largely unknown. Inflammatory response to an initial stimulus on the level of genetic and/or immune predisposition may be the underlying cause of the disease. The final result is progressive disappearance of ganglion cells in the myenteric plexus and motility disorder. Autoimmune thyropathy (AIT) is a typical disease involving genetic background and immune response disorder.
44 patients (of which 30 women and 14 men) with diagnosed esophageal achalasia and a control group of patients with esophageal reflux of corresponding age and sex were screened for thyroid disease.
Thyroid disease was diagnosed in 15 out of 44 patients with achalasia (34%). Thyropathy was detected in 11 women (37%) and 4 men (28%). AIT was detected in 10 patients, in 4 of whom with hypfunction, nontoxic cystic or nodular goitre was detected in 4 patients, 1 patient was after strumectomy for benign node. Positive antithyroid antibody was newly detected in 4 patients with achalasia; subclinical hypothyreosis was found in one of them. There were two cases ofAIT with subclinical hypofunction and 1 case of nontoxic goitre in the control group (7%). The difference was statistically significant (p < 0.01).
The incidence of thyroid disease proved higher in patients with achalasia than in the controls. The rate of occurrence of thyroid disease exceeded significantly the occurrence in the population. The association of achalasia with prevailingly autoimmune thyropathy may corroborate the importance of autoimmunity in the etiopathogenesis of the disease.
- [show abstract] [hide abstract]
ABSTRACT: Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.Human Genetics 10/2010; 128(4):353-64. · 4.63 Impact Factor