What is the primary treatment approach for a patient diagnosed with Amyotrophic Lateral Sclerosis (ALS)?

Amyotrophic Lateral Sclerosis (ALS) Management

The primary treatment approach for ALS is multidisciplinary palliative care initiated at diagnosis, combined with riluzole 50 mg twice daily as the only FDA-approved disease-modifying therapy that extends survival. 1

Disease-Modifying Pharmacotherapy

Riluzole is the cornerstone pharmacologic treatment and should be started immediately upon diagnosis in all patients without contraindications. 1

• Dosing: 50 mg orally twice daily, taken at least 1 hour before or 2 hours after meals 1
• Efficacy: Extends survival by approximately 2-3 months with best benefit-to-risk ratio at 100 mg daily dose 2
• Monitoring requirements: Measure serum aminotransferases before starting and regularly during treatment 1
• Contraindications: Baseline liver enzymes >5 times upper limit of normal or active liver disease 1, 3
• Common adverse effects: Asthenia (18%), nausea (15%), elevated transaminases (10-15% with levels >3x ULN) 3, 2

Additional FDA-approved agents include edaravone and sodium phenylbutyrate/taurursodiol, though riluzole remains first-line 4, 5

Multidisciplinary Palliative Care Framework

Palliative care must be integrated from the time of diagnosis, not reserved for end-stage disease. 6, 7, 8

Core Team Composition

The multidisciplinary team should include neurology (as care coordinator), pulmonology, gastroenterology, speech-language pathology, nutrition, physical therapy, occupational therapy, social work, and palliative care 8

Early Advance Care Planning

• Initiate advance directive discussions at diagnosis, before communication becomes severely limited 6, 8
• Address preferences regarding ventilatory support, feeding tubes, and end-of-life care early 6
• Only 30% of patients complete advance directives despite 78% of centers considering them useful 6

Respiratory Management

Initiate non-invasive ventilation (NIV) when forced vital capacity (FVC) falls below 80% of normal with symptoms, FVC <50% predicted, or evidence of sleep-disordered breathing. 8

• Use bilevel positive airway pressure (BPAP) with backup respiratory rate for patients with bulbar impairment 8
• Screen for cognitive impairment before recommending NIV, as cognitive dysfunction reduces compliance 6
• Only 4-9% of patients choose invasive mechanical ventilation, requiring careful advance planning 6
• Respiratory failure from respiratory muscle weakness is the most common cause of death 6

Nutritional Support

Assess nutritional status (BMI, weight loss) every 3 months to detect early malnutrition. 7, 8

Dysphagia Management

• Perform videofluoroscopy at diagnosis for all patients with bulbar symptoms, even if asymptomatic 7, 8
• Modify food texture to facilitate swallowing 7, 8
• Implement chin-tuck postural maneuvers to prevent aspiration 6, 8
• Use thicker liquids and semisolid foods with high water content instead of thin liquids 6, 8
• Throat clearing every 3-4 swallows prevents postswallowing inhalation 6

Enteral Nutrition

Place percutaneous endoscopic gastrostomy (PEG) before FVC falls below 50% of predicted to minimize procedural risk. 7, 8

• Gastrostomy placement rates vary by country, with mean feeding duration of 11-18 months 6
• Approximately 80% of bulbar-onset ALS patients develop dysphagia 6

Prognostic Considerations

Mean survival is 3-5 years after symptom onset, with only 5-10% of patients living longer than 10 years. 6

• Bulbar-onset ALS has significantly worse outcomes: median survival 28 months versus 44 months for spinal-onset 8
• Aspiration pneumonia occurs in 11.4-13% of bulbar ALS cases and represents a leading cause of mortality 8
• Up to 40% of patients have cognitive impairment, which affects treatment decisions and compliance 6

Caregiver Support

Implement structured caregiver support from diagnosis, including counseling, support groups, and crisis management systems. 6

• Behavioral deficits in ALS patients have significant negative impact on caregivers' quality of life 6
• Caregiver burden is substantial and worsens throughout disease progression 6

Critical Pitfalls to Avoid

• Late referral to palliative services is the most common and harmful error 6, 8
• Delaying advance care planning discussions until communication is severely impaired 6, 8
• Failing to screen for cognitive impairment before recommending NIV or discussing invasive ventilation 6
• Waiting too long for PEG placement when respiratory function has already deteriorated significantly 7, 8
• Not monitoring liver enzymes regularly in patients on riluzole 1, 3