Tag Archives: achalasia

New Mutations: Achalasia, Pseudoobstruction, & IBD

Posted on by

The ability to use whole exome sequencing and widely available genetic testing is yielding a plethora of new information regarding the genetic causes for many conditions.  In gastroenterology, here are a few recent examples:

  • Shteyer E, et al. “Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.” Gastroenterology. 2015 Mar;148(3):533-536.e4. doi: 10.1053/j.gastro.2014.11.044. Epub 2014 Dec 3.
  • Bonora E, et al. “Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-Obstruction” Gastroenterology 2015; 148: 771-82.  Genetic defect in RAD21 identified in Turkish family with consanguinity; in addition, APOB48 serum levels was identified as a potential biomarker for intestinal pseudo-obstruction and intestinal ganglion numbers.
  • Alonso A, et al. “Identification of Loci for Crohn’s Disease Phenotypes Using a Genome-Wide Association Study.” Gastroenterology 2015; 148: 794-805. Variants in MAG11, CLCA2, 2q24.1, LY75 identified as associated with Crohn’s phenotypes.

For me, I am not sure whether these findings should be considered mundane or amazing. On the one hand, each of the findings helps understand these diseases; yet, I came across all of these articles in the span of 24 hours and from the same journal.

What does the law require with regard to food allergen labeling? (plus one)

Posted on by

From APFED twitter feed: What does the Food Allergen Labeling and Consumer Protection Act require?: http://youtu.be/nhBd9iTYkUQ?a (<2 minute video)

Plus one more reference on Achalasia:

A recent review on achalasia highlights the recent advances in our understanding of this disorder (Gastroenterol 2013; 145: 954-65). This post is mainly to note it as a useful reference.

Specific topics covered include the following:

  • High-resolution manometry
  • Criteria for achalasia diagnosis
  • Physiology/pathogenesis/pathophysiology.  Achalasia is “an autoimmune disease targeting esophageal myenteric neurons with both a cell-mediated and antibody-mediated attack directed against an as yet unidentified antigen.”
  • Subtypes (Figure 2 shows, in color, manometric pattens with each subtype)

Related posts:

POEMs in Practice for Achalasia

Posted on by

As noted in a previous blog  regarding NOTES (see link below), peroral endoscopic myotomy (POEM) has been investigated for treatment of achalasia.  Now, a prospective study of 70 patients from 5 centers reports excellent results (Gastroeenterol 2013; 145: 309-11, editorial 272-73).

 Results:

  • 3 months after POEM, 97% of patients were in symptom remission.
  • 12 months after POEM, 82% of patients were in symptom remission.

Potential benefits of POEM:

Early results suggest similar efficacy to surgery but with the recovery profile of an endoscopy Painless

For more widespread adoption, many questions need to addressed:

  • the appropriate length & thickness of myotomy
  • the optimal equipment
  • the best ‘surgeons’ for this technique
  • how do long-term outcomes compare to Heller myotomy or balloon dilatation

Related blog posts:

EPT for Achalasia

Posted on by

EPT or esophageal pressure topography (using high-resolution manometry) can help predict outcomes for achalasia (Gastroenterol 2013; 144: 718-25, editorial 681-83).

Background:  Patients with achalasia often present with dysphagia, chest pain, and regurgitation.  These symptoms result from impaired lower esophageal sphincter relaxation and aperistalsis.  While the main treatment has focused on disruption of the sphincter, esophageal body pressures may be important in long-term outcomes.

Three patterns of esophageal body pressures with achalasia:

  • type 1 absence of peristalsis and minimal pressurization
  • type 2 absence of peristalsis with panesophageal pressurization (≥30 mm Hg)
  • type 3 evidence of spasm

According to the cited study which reviewed data from 176 patients in the European achalasia trial (time period: 2003-2008, 18-75 year old), success rates were better with type 2 achalasia (96%, n=114) compared with type 1 (81%, n=44) or type 3 (66%, n=18).

In addition, the EPT findings may influence treatment selection.  Pneumatic dilation (PD) was more successful than Heller myotomy (HM) for type 2 patients (100% vs. 93%, p < 0.05).  However, HM was considered successful more frequently for patients with type 3 achalasia (86% vs. 40% –though not statistically significant due to small numbers).  For type 1, no significant difference was noted between HM and PD at 2 year followup, 81% vs. 85% respectively.

The commentary discusses some of the pertinent issues.   For example, HM may be better than PD among type 1 patients; the exclusion of patients with severe dilatation of esophagus.

Take-home message (from editorial) “The task at hand is to determine whether these distinct categories truly matter in clinical practice…it seems that the subtypes of achalasia do have prognostic value…we …need to determine…whether subtypes can inform treatment options.”