Strategies for Care and Support of Late-onset Pompe Disease

Late-onset Pompe disease (LOPD) is a chronic degenerative illness that may have a profound effect on patient quality of life, and patients typically present with difficulties in mobility and respiration. Patients who have had the disease for a longer time generally have a greater disease severity.

This section aims to introduce the network of supportive care and care strategies, including symptom management, that are available for patients with LOPD. For information on IOPD, visit Care and Support for IOPD Patients

Introduction to Strategies Used to Care for a Patient With LOPD

Because of the multisystemic nature of LOPD, management requires a multidisciplinary team led by a care coordinator who is responsible for the coordination of the patient’s care plan. Prompt referral to a suitable multidisciplinary subspecialty center with experience in Pompe disease is ideal.

Coping strategies may also help patients, friends and their family members as well.

Managing Symptoms of Pompe Disease

Late-onset Pompe disease is a multisystemic disorder, predominately involving muscular, musculoskeletal, respiratory, and gastrointestinal systems. The most common symptoms reported in LOPD include proximal muscle weakness, trunk muscle weakness, exercise intolerance, impaired cough, shortness of breath, and gait difficulties. Because LOPD is always progressive—it worsens over time—regular check-ups are a must for monitoring symptoms and adjusting treatment as necessary.

To access assessment schedules, refer to Schedule of Assessments.

Pompe disease often results in a weakened diaphragm, the large muscle located just below the lungs that plays a crucial role in breathing. A weakened diaphragm makes it hard to breathe deeply and get enough air into the lungs, especially when lying down. A weakened diaphragm also makes it difficult to cough strongly enough to clear mucus out of the lungs, eventually leading to respiratory insufficiency. It can progress to respiratory failure—a serious and life-threatening situation—during which the body cannot breathe at all on its own.

Although initial symptoms may be mild, managing them with non-invasive respiratory support methods such as respiratory muscle training, cough assist devices, airway clearance, supplemental oxygen, bronchodilators, and BiPAP/CPAP is extremely important. In case of respiratory insufficiency during sleep and waking hours, an invasive support option is tracheostomy tube placement with mechanical ventilation.

Some patients may not be able to clear mucous from their lungs, making them susceptible to infections such as bronchitis or pneumonia. This can be managed through preventive measures such as keeping up-to-date with vaccinations (patient and family members), seeing a doctor any time the patient develops a cold or a fever, washing hands frequently, getting regular medical check-ups, and careful use of over-the-counter medications to treat coughs/colds as recommended by a healthcare provider.

Weak swallowing muscles also create the risk of accidentally inhaling food or liquids into the lungs while eating. Respiratory and physical therapists as potential members of the Comprehensive Care Team for LOPD can teach patients exercises to strengthen muscles that can reduce these risks.

Most people with Pompe disease experience significant muscle weakness that leads to reduced mobility. This is because the disease often weakens major skeletal muscles, such as those in the legs and hips, that allow people to walk, stand up straight, and keep their balance.

A variety of supportive care options can help manage mobility difficulties:

  • Physical therapy can help improve muscle strength and flexibility and improve mobility
  • Occupational therapy teaches people new ways to perform daily tasks and adapt to changes in their body and environment
  • Use of supportive equipment such as wheelchairs lets people stay mobile and maintain their independence as muscle weakness progresses
  • In some cases, surgery may be necessary to correct bone problems such as scoliosis (a sideways curvature of the spine), which can develop as a result of weak muscles

Because Pompe disease is progressive—it worsens over time—regular check-ups are important for monitoring mobility difficulties and adjusting the plan for care as needed.

Pain and fatigue in patients with LOPD have been associated with muscle weakness, depression/anxiety, reduced quality of life, and lack of participation in day-to-day life/inability to perform daily activities. The use of special equipment that helps in daily activities known as assistive technology and conserving one’s energy can help, as can connecting with other patients.