Amyotrophic lateral sclerosis (ALS) is a progressive, debilitating, fatal disease that involves degeneration of upper and lower
motor neurons. Patients often initially present with limb or bulbar weakness, atrophy, and spasticity, followed by progressive loss of ambulation and, ultimately, respiratory failure, which is the most common cause of death.
Despite numerous investigations into the pathogenesis of ALS, the mechanism for neuron loss is not known, and drug therapies have yet to prolong life expectancy for more than a few months.1 Treatment is largely supportive and symptomatic. Evidence-based guidelines have been generated to address the multidisciplinary approach to treatment. Points reviewed here include the following:
1. How to convey the diagnosis.
2. Symptomatic treatment.
3. Management of nutritional needs and use of enteral feeding.
4. Management of respiratory weakness and use of artificial ventilation.
5. End-of-life planning.
DELIVERING THE DIAGNOSIS
Informing a patient of a terminal diagnosis is a difficult task. Information should be delivered in a way that considers the anxiety faced by the patient and that communicates the physician's commitment to continued patient care, with particular attention to amelioration of distressing symptoms that develop in the course of ALS. Some hope of preserving quality of life (QOL) should be offered without providing false hope. In many cases, patients have already been told that ALS is a possibility and might suspect the diagnosis.
When the diagnosis is electromyographically confirmed and testing has ruled out other possible causes for signs and symptoms, it is important for the physician caring for the patient to deliver the diagnosis. It should always be performed in a face-to-face interview and never by telephone. The physician should clearly state that the diagnosis is ALS—or Lou Gehrig disease—without referring to similar terms (such as anterior horn cell disease or motor neuron disease) that may have no meaning for medically untrained patients.
Patients should be told that there is no definitive cure for ALS and that there are no treatments that significantly alter its clinical course. A specific time frame for life expectancy should be avoided because life expectancy is very difficult to predict in any given patient.2,3 A rough estimate can be made if the patient or family insists on it in regard to long-term planning.
Ideally, the SPIKES (setting, perception, invitation, knowledge, exploration, and strategy or summary) criteria should be fulfilled.4,5 This requires a private place and setting aside sufficient time for questions and explanations and for providing information about appropriate resources. Patients often report that physicians do not allow enough time for discussion and do not provide adequate information about the disease or about resources such as specialty clinics and organizations such as the Amyotrophic Lateral Sclerosis Association (ALSA) and the Muscular Dystrophy Association (MDA). Physicians spending less than 20 minutes with patients were consistently rated poorly in their ability to deliver bad news.2
Patients also should be made aware of clinical trials of treatments for ALS. Many patients appreciate the opportunity to potentially benefit from these treatments and are grateful to participate in research that may help others with ALS.
A follow-up soon after the delivery of the diagnosis should be arranged during which other important aspects of ALS care should be discussed. The patient should be informed that decisions about the use of feeding tubes and invasive ventilation and about code status will need to be made in the future and that caregivers and family members should participate in such decision making. It is usually preferable (unless clinical circumstances dictate that immediate decisions be made) to avoid in-depth discussions about ventilation and feeding options at the time of diagnosis. The physician should encourage the patient to provide updates about symptoms and should regularly follow up with patients to address new symptoms and to remind patients that many of the symptoms can be managed.
Riluzole (Rilutek), a glutamate antagonist, is currently the only medication approved by the FDA for the treatment of ALS. Clinical studies demonstrated a modest improvement in life expectancy in those patients taking the drug for 18 months.6 Riluzole appears to be most helpful when administered early in the disease course.1 Riluzole can cause a transitory rise in liver transaminase levels and, rarely, neutropenia.7 Although there is much debate on the cost-effectiveness and efficacy of riluzole, most physicians prescribe it for patients with ALS, and approximately 70% of these patients take it.
Patients with ALS often ask questions about experimental therapies. More than 30 clinical studies sponsored by the NIH are now enrolling patients with ALS. Six of these studies are for new disease-modifying therapies. Patients often seek out ALS centers to participate in research studies. Web sites such as that of the ALSA (www.alsa.org) and www.clinicaltrials.gov are helpful to patients because they provide descriptions, locations, and contact numbers of study centers. Many centers, however, will not enroll patients living at a great distance because of the inherent difficulties in managing complications that may arise.
Many patients have either tried or read about alternative or experimental therapies.8 Bone marrow transplantations for patients with ALS are offered at sites outside the United States. Nutritional supplements and colonic cleansing and detoxification programs are publicized widely on the Internet. Many of these programs have little or no literature to support their effectiveness and safety. The costs of these regimens can be prohibitive—some cost more than $10,000 per treatment.
Discussing alternative and experimental treatments with patients and pointing out the lack of scientific evidence supporting them helps patients avoid dangerous treatments and causes them to give more thought to whether they should spend large sums of money on such endeavors.
It is important not to be dismissive of all treatments; alienation of the patient will negatively impact the doctor-patient relationship, and the patient will be less likely to speak about the alternative regimens he or she may be using.9