Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease

Br J Oral Maxillofac Surg. 2019 Nov;57(9):831-838. doi: 10.1016/j.bjoms.2019.07.018. Epub 2019 Aug 9.

Abstract

Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations followed by loss of function of enzymes or transporters that are localised in the acidic environment of the lysosome may result in degradation of many substrates, such as glycosaminoglycans, glycosphingolipids, glycogen, cholesterol, oligosaccharides, glycoproteins, and peptides, or the excretion of the products degraded by the lysosome. Our aim was to identify the oral signs and symptoms of Fabry disease and Pompe disease from a systematic review made using MEDLINE/PubMed, and a hand search for relevant articles, following the PRISMA guidelines. Both diseases show various craniofacial and oral changes, including supernumerary teeth, dental agenesis, angiokeratoma, and telangiectases in Fabry disease; and macroglossia, teeth fusion, and taurodontism in Pompe disease. Common clinical signs of Fabry disease include hyposalivation, hypohidrosis, and xerophthalmia, and a generally reduced physical resilience was apparent in patients with Pompe disease. Oral and craniofacial changes in patients with both diseases extend over their entire lifetime and can be detected even in an infant. Lysosomal storage diseases should be taken into consideration in the differential diagnosis of relevant diverse symptoms, because treatment, when available, is most effective when started early. The main therapeutic concepts are enzymatic replacement for Pompe disease, whereas patients with Fabry disease require additional oral chaperone treatment or enzyme replacement.

Keywords: Craniofacial findings; Fabry disease; Interdisciplinary dentistry; Oral manifestations; Pompe disease; Rare diseases.

Publication types

  • Systematic Review

MeSH terms

  • Disease Progression
  • Fabry Disease* / diagnosis
  • Fabry Disease* / pathology
  • Glycogen Storage Disease Type II* / diagnosis
  • Glycogen Storage Disease Type II* / pathology
  • Humans
  • Lysosomal Storage Diseases* / diagnosis
  • Lysosomal Storage Diseases* / pathology
  • Mutation