Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022;9(5):661-673.
doi: 10.3233/JND-220819.

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting

Ali Al Shehri  1 , Abdullah Al-Asmi  2 , Abdullah Mohammed Al Salti  3 , Abubaker Almadani  4 , Ali Hassan  5 , Ahmed K Bamaga  6   7 , Edward J Cupler  8 , Jasem Al-Hashel  9   10 , Majed M Alabdali  11 , Mohammed H Alanazy  12 , Suzan Noori  13
Affiliations
Review

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting

Ali Al Shehri et al. J Neuromuscul Dis. 2022.

Abstract

Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD). However, clinicians face numerous clinical challenges related to the diagnosis of the disease. Two expert group committee meetings, involving 11 experts from the United Arab Emirates, Kuwait, the Kingdom of Saudi Arabia, and Oman, were convened in October 2019 and November 2020 respectively to develop a uniform diagnostic algorithm for the diagnosis of pediatric and adult LOPD in the Arabian Peninsula region. During the first meeting, the specialty-specific clinical presentation of LOPD was defined. During the second meeting, a diagnostic algorithm was developed after a thorough validation of clinical presentation or symptoms, which was performed with the aid of existing literature and expert judgement. A consensus was reached on the diagnostic algorithm for field specialists, such as neurologists, rheumatologists, general practitioners/internal medicine specialists, orthopedic specialists, and pulmonologists. This specialty-specific diagnostic referral algorithm for pediatric and adult LOPD will guide clinicians in the differential diagnosis of LOPD.

Keywords: Arabian Peninsula region; Late-onset Pompe disease; acid alpha-glucosidase; dried blood spot.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Proposed pediatric LOPD* clinical presentation and recommendations by experts during the first Expert Group Committee Meeting.
Fig. 2
Fig. 2
Proposed adult LOPD* clinical presentation and recommendations by experts during the first expert group committee meeting.
Fig. 3
Fig. 3
Proposed diagnostic algorithm for all specialists* except GPs/IMs/Peds /orthopedics.
Fig. 4
Fig. 4
Proposed diagnostic algorithm for GPs/IMs/ Peds/ orthopedics.
See this image and copyright information in PMC

References

    1. McCall AL, Salemi J, Bhanap P, Strickland LM, Elmallah MK, The impact of Pompe disease on smooth muscle: A review. J Smooth Muscle Res. 2018;54:100–18. doi: https://doi.org/10.1540/jsmr.54.100. - DOI - PMC - PubMed
    1. Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, et al.., Pompe disease: Pathogenesis, molecular genetics and diagnosis. Aging (Albany NY). 2020;12:15856–74. doi: https://doi.org/10.18632/aging.103794. - DOI - PMC - PubMed
    1. Meena NK, Raben N, Pompe Disease: New Developments in an Old Lysosomal Storage Disorder. Biomolecules. 2020;10:1339. doi: https://doi.org/10.3390/biom10091339. - DOI - PMC - PubMed
    1. Feeney EJ, Austin S, Chien YH, The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients. Acta Neuropathol Commun. 2014;2:2. doi: https://doi.org/10.1186/2051-5960-2-2. - DOI - PMC - PubMed
    1. Toscano A, Rodolico C, Musumeci O, Multisystem late onset Pompe disease (LOPD): An update on clinical aspects. Ann Transl Med. 2019;7:284. doi: https://doi.org/10.21037/atm.2019.07.24. - DOI - PMC - PubMed