What is the correlation between Familial Dysautonomia (Riley-Day Syndrome) and recurrent respiratory illness?

From the Guidelines

Familial dysautonomia has a strong correlation with recurrent respiratory illnesses due to the autonomic nervous system dysfunction that characterizes this genetic disorder. Patients with familial dysautonomia frequently experience respiratory complications including aspiration pneumonia, sleep apnea, and decreased cough reflex, which collectively lead to recurrent respiratory infections. The underlying mechanism involves impaired swallowing coordination, decreased airway protection, and ineffective clearance of secretions due to the IKBKAP gene mutation that affects sensory and autonomic neurons. Management typically includes aggressive pulmonary hygiene with chest physiotherapy twice daily, prompt antibiotic treatment for infections (often with broad-spectrum options like amoxicillin-clavulanate 875/125 mg twice daily for 7-10 days for mild infections, or more potent regimens for severe cases), and preventive measures such as annual influenza vaccination and pneumococcal vaccines. Some patients benefit from prophylactic antibiotics during winter months, while others require supplemental oxygen or non-invasive ventilation support, particularly at night. Regular pulmonology follow-up every 3-6 months is essential to monitor respiratory function and adjust treatments accordingly. Early intervention for respiratory symptoms is critical as respiratory complications represent a major cause of morbidity and mortality in familial dysautonomia patients, as seen in other neuromuscular diseases like Duchenne muscular dystrophy 1.

Key Considerations

• Respiratory function should be monitored regularly, with assessments including medical history of respiratory symptoms, forced vital capacity (FVC), and peak cough flow (PCF) 1.
• Patients with familial dysautonomia should be monitored for symptoms suggestive of sleep-disordered breathing, and sleep studies may be necessary for diagnosis and management 1.
• The use of oxygen therapy should be approached with caution, as excessive oxygen administration can worsen hypercapnia, and low oxygen levels can indicate a need for ventilatory support 1.
• A multidisciplinary team, including respiratory physicians, physiotherapists, and practitioners with experience in neuromuscular diseases, should be involved in the management and delivery of respiratory care 1.

Management Strategies

• Aggressive pulmonary hygiene with chest physiotherapy twice daily
• Prompt antibiotic treatment for infections
• Preventive measures such as annual influenza vaccination and pneumococcal vaccines
• Prophylactic antibiotics during winter months for some patients
• Supplemental oxygen or non-invasive ventilation support, particularly at night, for others
• Regular pulmonology follow-up every 3-6 months to monitor respiratory function and adjust treatments accordingly.

From the Research

Correlation between Familial Dysautonomia and Recurrent Respiratory Illness

• Familial dysautonomia is a rare genetic disease that affects the development of sensory and autonomic nerves, leading to various systemic complications, including respiratory issues 2, 3.
• Patients with familial dysautonomia often experience neurogenic dysphagia, frequent aspiration, chronic lung disease, and chemoreflex failure, which can result in severe sleep-disordered breathing and recurrent respiratory illnesses 2.
• The condition is characterized by impaired pain and temperature appreciation, dysphagia, vomiting crises, blood pressure lability, and sudomotor dysfunction, among other symptoms 3.
• Respiratory complications, such as pulmonary failure, are a common cause of death in patients with familial dysautonomia 3.
• Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia include frequent reassessment and updating, as well as the use of various diagnostic tests and clinical interventions, such as prevention and management of aspiration, airway mucus clearance, and non-invasive ventilation during sleep 2.
• While there is no direct evidence on the correlation between familial dysautonomia and recurrent respiratory illness, the available studies suggest that patients with this condition are at a higher risk of developing respiratory complications due to their underlying neurological and autonomic dysfunction 2, 3.