Untitled

Abstract

Achalasia is the best described motor disorder of the esophagus. Associations with familial glucocorticoid deficiency and alacrima (triple A syndrome) have been described in the pediatric population, but no attention has been paid to the possibility of this association in adults. Tear production was assessed in 20 patients with achalasia and 20 age- and sex-matched controls. Deficient tears were found in four achalasics compared with none among the controls (P < 0.05). This suggests that some variant of the triple A Syndrome (achalasia, alacrima, and adrenocortical insufficiency) may exist in adult patients with achalasia as well.

Genetic Evaluation of ALADIN Gene in Early-Onset Achalasia and Alacrima Patients

“…However, all the enrolled patients were negative from the symptoms and signs of connective tissue disorders. When compared from the previous report of alacrima in 20% of achalasia patients from young to old age, our study based on the early-age onset achalasia with the onset age below 35 years old might have more proportion of alacrima 7. The mean age of patient taking Shirmer test was 32 ± 6 years old.…”

“…In the study of Verma et al,7 4 out of 20 achalasia patients (20%) exhibited alacrima. Verma's study enrolled the achalasia patients of the age from 21 to 84 years old.…”

“…This is a rare genetic disorder, with autosomal recessive inheritance, caused by genetic mutations on chromosome 12q13 (ALADIN or AAAS gene) 6. While a recent report showed that 20% of achalasia patients showed deficient secretion of tear, the relationship between the alacrima and achalasia has not been defined 7. Recently, young male patients who exhibited achlasia and alacrima without other features of triple A syndrome were reported 8.…”

Is Alacrima So Prevalent in Patients With Early-Onset Achalasia?: Author's reply

“…The previous study of Verma et al8 reported the 20% prevalence of alacrima with the Schirmer II test using the 5 mm/5 min cut-off value regardless of the onset of achalasia. When we used the more strict cut-off value in Schirmer I test (less than 5 mm/5 min), 26.3% of early-onset achalasia showed alacrima.…”

Is Alacrima So Prevalent in Patients With Early-Onset Achalasia?

“…Instead I consider that the authors should estimate the prevalence by using the recommended cut-off value of 5 mm/5 min. Additionally, in the study by Verma et al,6 the Schirmer test was performed with anesthesia with the 5 mm/5 min cut-off value of alacrimia. Therefore, I consider that the 20% prevalence of alacrimia reported in the study of Verma et al6 should not be directly compared with findings from the study of Jung et al4…”