What is the primary treatment and management plan for patients with Amyotrophic Lateral Sclerosis (ALS)?

Primary Treatment and Management of Amyotrophic Lateral Sclerosis (ALS)

The primary treatment for ALS is riluzole (50 mg twice daily), which is the only FDA-approved medication shown to prolong survival, along with a multidisciplinary approach focusing on symptom management, respiratory support, nutritional care, and palliative services. 1, 2

Pharmacological Management

Disease-Modifying Therapy

• Riluzole is indicated for the treatment of ALS with a recommended dosage of 50 mg twice daily, taken at least 1 hour before or 2 hours after meals 1
• Riluzole prolongs median survival by approximately 2-3 months and increases the probability of surviving one year by 9% (from 49% in placebo to 58% in the riluzole group) 3
• Serum aminotransferases should be measured before and during treatment to monitor for potential hepatic injury 1
• Riluzole appears to be particularly effective in patients with bulbar-onset ALS and in elderly patients 4

Symptom Management

• For patients with sialorrhea (excessive saliva), anticholinergic medications are recommended as first-line therapy 2
• If anticholinergics are ineffective or poorly tolerated, botulinum toxin therapy to salivary glands is suggested 2

Respiratory Management

• Pulmonary function tests (PFT) should be performed at minimum every 6 months, including vital capacity (FVC or SVC), maximum inspiratory/expiratory pressures (MIP/MEP), sniff nasal inspiratory pressure (SNIP), and peak cough flow (PCF) 2
• Non-invasive ventilation (NIV) should be initiated based on diagnostic tests such as FVC, MIP/MEP, overnight oximetry, or evidence of sleep-disordered breathing 2
• NIV treatment should be individualized to achieve ventilation goals by adjusting parameters such as mode of ventilation, inspiratory time, and inspiratory/expiratory pressures 2
• For patients with preserved bulbar function using NIV, mouthpiece ventilation (MPV) is suggested for daytime ventilatory support as an adjunct to nocturnal mask NIV 2
• When NIV fails or is not tolerated, invasive home mechanical ventilation via tracheostomy should be considered, particularly in patients with worsening bulbar function, frequent aspiration, or declining lung function 2

Nutritional Management

• Regular nutritional status assessment (BMI, weight loss) is recommended to detect early malnutrition 2
• Body composition analysis using DEXA or BIA with validated formula should be performed if available 2
• For patients with muscular fatigue and long-lasting meals, meals should be fractionated and enriched with energy or deficient nutrients 2
• If weight loss progresses, oral nutritional supplementation should be recommended 2
• For patients with moderate dysphagia, dietetic counseling should be provided to adapt the texture of solids and liquids to facilitate swallowing and avoid aspiration 2
• Instrumental study of swallowing function (videofluoroscopy, FEES) can guide the security and efficacy of texture-modified diets 2
• In patients with moderate dysphagia, postural maneuvers (such as chin-tuck posture) should be recommended to protect the airway during swallowing 2

Palliative Care

• A palliative care approach should be adopted from the time of diagnosis, not just at the end of life 2
• Early referral to palliative services is recommended, as sufficient time is required to establish relationships with staff and address end-of-life issues 2
• Advance directives should be discussed early in the disease course to allow patients to exercise autonomy regarding preferred end-of-life management strategies 2
• Structured caregiver support, including counseling, support groups, and crisis management systems, should be available 2

Multidisciplinary Care

• Patients should be managed by a multidisciplinary team that includes neurologists, pulmonologists, nutritionists, speech therapists, physical therapists, occupational therapists, and palliative care specialists 2
• Regular follow-up visits should be scheduled to monitor disease progression and adjust management strategies accordingly 2

Common Pitfalls and Caveats

• Riluzole should not be used in patients with a history of severe hypersensitivity reactions to the medication or its components 1
• Liver function should be monitored as riluzole may cause hepatic injury; it is not recommended in patients with baseline elevations of serum aminotransferases greater than 5 times the upper limit of normal 1
• Patients should be monitored for neutropenia and advised to report any febrile illness 1
• Riluzole should be discontinued if interstitial lung disease develops 1
• The most common adverse reactions to riluzole (incidence ≥5% and greater than placebo) are asthenia, nausea, dizziness, decreased lung function, and abdominal pain 1
• Despite its modest efficacy, riluzole remains the cornerstone of pharmacological management as it is the only medication proven to extend survival 3
• Discussions regarding invasive ventilation should be started early in the course of illness and include goals of care, potential need for institutionalization, and burden on caregivers 2