Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of...

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• Pompe disease results from deficient acid α-glucosidase (GAA) activity, a lysosomal enzyme.
• While infantile and juvenile forms are well-characterized, the clinical spectrum of later-onset Pompe disease is still emerging.
• Muscle weakness and respiratory failure are typical hallmarks of later-onset Pompe disease.

Observation:

• Three later-onset Pompe disease patients presented with previously unrecognized gastrointestinal symptoms, including chronic diarrhea, bloating, abdominal pain, and intestinal incontinence.
• These gastrointestinal issues significantly impacted the patients' quality of life, restricting daily activities.
• One patient experienced daily synchronous vomiting and diarrhea.

Findings:

• Gastrointestinal symptoms are a newly identified manifestation of later-onset Pompe disease.
• Enzyme replacement therapy (ERT) using recombinant human alglucosidase alpha (rhGAA) led to the resolution of all reported gastrointestinal symptoms within six months.
• Patients experienced weight gain and remained symptom-free post-treatment, with two patients remaining symptom-free for over four years.

Implications:

• This study highlights the importance of considering gastrointestinal symptoms in the differential diagnosis of later-onset Pompe disease.
• ERT with rhGAA demonstrates efficacy in treating not only the primary neuromuscular deficits but also associated gastrointestinal manifestations.
• Further research into the pathophysiology and prevalence of GI symptoms in Pompe disease is warranted.