#apaperaday: Severe gastrointestinal problems in Duchenne muscular dystrophy: A case series

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Severe gastrointestinal problems in Duchenne muscular dystrophy: A case series

Today’s pick is by Blokuis et al from @WorldMuscleSoc journal Neuromuscular Disorders, with a case series of Duchenne adults with severe gastrointestinal (GI) problems. DOI: 10.1016/j.nmd.2024.05.006

Duchenne is characterized by progressive muscle weakness. With good care and management many patients now live into their thirties or beyond, but this reveals new medical problems, such as problems with the digestive tract due to problems chewing, swallowing and GI issues.

Especially the GI issues can lead to life threatening situations. Authors here provide a case study of 6 Dutch Duchenne patients who had severe GI issues that lead to hospitalization for whom they provide a long term follow up.

Authors report they had 9 Duchenne patients in the past 10 years from their cohort of 80 adult Duchenne patients with severe GI studies. 3 of the patients passed away and authors could either not find the family or they did but the family did not consent for study participation.

The 6 others are included in the report. One of these sadly also passed away at age 31. The others are still alive. For 3 a genetic diagnosis was in place, for 1 a diagnosis based on dystrophin absence in a biopsy and for 2 the diagnosis was based on clinical presentation.

Note that when these patients were young and first showing symptoms, genetic diagnosis was still in its infancy. All 6 patients were on ventilation, 2 were still on steroids and 3 had a gastric tube. They all presented with acute problems which led to hospitalization.

Most often this was GI pseudo-obstruction with colonic distension (seen with imaging). For 3 this had been observed years before hospitalization. Management consisted of withholding food intake by mouth, decompression of the stomach, venting the gastric tube, rehydration, electrolyte replacement, tube feeding, drugs to treat constipation, decompression of rectal tube, treatment of concomitant infections & providing respiratory support. In one case the ventilation tube turned out to lead into the GI tract and adjustment solved problems

Authors report that often the GI problems were accompanied by respiratory infections (often pneumonia). Authors discuss potential causes for the GI problems. First there is lack of dystrophin, which also has a function in smooth muscle and lack leads to loss of smooth muscle

Thus motility of the gut is reduced. Furthermore, patients have reduced fluid intake – often because they want to reduce toilet visits. Ventilation also can lead to aerophagia (swallowing air). This is a vicious circle, as the gas will extend the gut, thus reducing lung volume.

This reduced lung volume will mean the ventilation pressure increases, which will mean more air will be swallowed and so on. Authors also stress that for at least 3 patients there was GI distension seen (years) before hospitalization.

They argue that ideally a more proactive approach should be followed to prevent acute GI issues e.g. by a personalized laxative treatment and increased fluid intake. More work is needed to see if and how GI issues can be prevented in Duchenne.

Kudos to authors for sharing the case series and good to see more attention is paid now to GI issues in adults with Duchenne. See also another paper a day from the past also from Neuromuscular Disorders – good to see @WorldMuscleSoc gives this attention).