Official websites use. Share sensitive information only on official, secure websites. Keywords: Pompe disease, acid maltase deficiency, lysosomal storage disease, glycogen storage, disease type II, management guidelines. Pompe disease is a rare, progressive, and often fatal muscular disease.
The underlying pathology is a deficiency of the enzyme acid alpha-glucosidase GAA that hydrolyzes lysosomal glycogen. Pompe disease is a single disease which manifests as a clinical spectrum that varies with respect to age at onset, rate of disease progression, and extent of organ involvement. The advent of enzyme replacement therapy for this condition will necessitate early diagnosis.
This guideline for the management of Pompe disease was developed as an educational resource for health care providers to facilitate the prompt and accurate diagnosis and treatment of patients. An international group of experts in various aspects of Pompe disease met to review the evidence base from the scientific literature and their expert opinions.
Consensus was developed in each area of diagnosis, treatment and management in the development of this guideline. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are provided. Aspects of functional assessment, rehabilitation, nutritional management, emerging therapeutics, care coordination, nursing, genetic counseling, prenatal diagnosis and screening also are addressed.
A guideline that will facilitate the appropriate diagnosis, treatment and management of patients with Pompe disease was developed. It will raise awareness of this condition and the presentation of patients across the disease spectrum in order to expedite their diagnosis so they can take advantage of emerging therapeutics such as enzyme replacement therapy ERT. In Pompe disease, lysosomal glycogen accumulates in many tissues with skeletal, cardiac, and smooth muscle most prominently involved.
