Symptom management

The multisystemic impact of Pompe disease is such that symptom management and supportive care fall into several categories

Respiratory support

Respiratory support is one of the most critical forms of management, as most patients with Pompe disease experience some form of respiratory compromise, with respiratory failure being the most common cause of premature death among children and adults with the   disease Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. -- Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84

Respiratory support often involves:

  • Use of supplemental oxygen (restricted to certain situations)
  • Airway secretion clearance through assistive cough and other techniques
  • Various forms of mechanical ventilation to assist weakened breathing muscles, with tracheostomy in the most severe cases
  • Feeding modifications to reduce aspiration risks
  • Up-to-date vaccinations, including vaccination against pneumococcus and influenza

Other interventions may include special forms of physical therapy to strengthen weakened respiratory  muscles Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. , as well as aggressive management of infection. Generally, more frequent and invasive respiratory support is required as the disease  progresses Hagemans ML, Hop WC, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006; 66:581-3. -- Mellies U, Lofaso F. Pompe disease: A neuromuscular disease with respiratory muscle involvement. Respir Med. 2009;103(4):477-84 .

Physical rehabilitation

Pompe disease results in progressive muscular degeneration, which causes varying types and degrees of physical disability. Management of these clinical manifestations is focused on preserving and improving physical function, as well as enhancing patient comfort. Equally important is alleviation or prevention of secondary complications, such as contracture, deformity and low bone mineral  density Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. . Rehabilitation programs should be tailored to patients’ individual needs and may include a range of therapies and strategies, such   as Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. -- Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. :

  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Adaptive and assistive devices
  • Orthopedic intervention and/or surgery

Cardiac care

Infants often require frequent cardiac assessment and management of symptoms. These patients are at risk of cardiomyopathy, cardiomegaly, congestive heart failure, arrhythmias, and cardiac arrest during surgery. Pharmacologic treatment should be based on the stage of  cardiomyopathy Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. .

The need for any form of surgery in infants with Pompe disease should be carefully weighed against the significant risks of anesthesia in these patients. Therefore, anesthesia should be used only when absolutely necessary, and always overseen by an experienced pediatric and/or cardiac anesthetist.

Psychosocial support

As a chronic, degenerative illness with profound effects on quality-of-life, Pompe disease can have a considerable emotional and psychological impact on patients and their families. An integral part of patient care is thus providing a range of psychosocial support services to help ease the burden and improve overall  well-being Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. -- Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. :

  • Individual and family counseling
  • Access to disease education
  • Patient organizations and advocacy groups
  • Support groups and networks for connecting with other patients
  • Mental health and social work services

General medical care

Muscle weakness associated with Pompe disease, as well as respiratory and cardiac signs of the condition, can often compromise patients’ general health and  well-being Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. -- Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. . For example, many individuals experience problems with mobility, an increased susceptibility to infections and difficulty maintaining weight. A variety of therapies and strategies can help to manage and control these issues:

  • Dietary therapy and other techniques for ensuring adequate nutrition
  • Taking special care with medications and their side effects, and following post-surgery recommendations
  • Strategies to prevent and manage infections