Surgical Pathology of Primary Intestinal Myopathy.

Abstract

Context.—: Pathologic evaluation of intestinal biopsies or resection specimens is often part of the diagnostic workup for patients with pseudo-obstruction or other forms of severe intestinal dysmotility. Some of these patients have one of several types of primary intestinal myopathy, but the pathologic features that identify and/or distinguish these conditions have been incompletely defined and need to be readdressed in the context of newly recognized genetic etiologies.

Objective.—: To convey a practical approach to surgical pathology diagnosis of primary intestinal myopathy based on a comprehensive review of pathology findings in patients with primary intestinal myopathy, including data collected from patients with intestinal myopathy-related pathogenic gene variants.

Data sources.—: A review of the literature as well as cases from multiple institutions that were examined by the author.

Conclusions.—: Microscopic alterations indicative of primary intestinal myopathy must be distinguished from nonspecific findings associated with chronic distension, surgical procurement, or preanalytic tissue processing. Most histopathologically recognizable forms of primary intestinal myopathy can be grouped as either structural alterations of the muscularis propria or degenerative leiomyopathies. Some histopathologic findings correlate with specific types of primary intestinal myopathy, but biopsies or resections from many patients with pathogenic variants in genes that encode smooth muscle contractile proteins show no diagnostic alterations. In some situations, an invasive procedure to obtain tissue for histopathologic evaluation has limited utility and molecular genetic testing may be a superior initial diagnostic approach.