“These patients often undergo a long diagnostic odyssey of being misdiagnosed and treated incorrectly,” Dr. Raymond said. “Only years later, when they develop renal disease, cardiomyopathy, throw emboli, or have large- and small-vessel strokes, does a provider connect the dots.
Dr. Gerald Vincent Raymond
“Neurologists should consider Fabry disease with any young patient with stroke, history of cardiomyopathy, renal disease, small-fiber peripheral neuropathy, tinnitus, hearing loss, unusual corneal whorls, or gastrointestinal issues. Because Fabry is an X-linked disease, women are usually less affected, but women can have the full manifestations of this disease.”
Who oversees the care of patients with Fabry disease?
“As a multisystem disease, Fabry disease must be managed by a multidisciplinary team, including genetics, neurology, nephrology, cardiology, psychiatry, ophthalmology, and otolaryngology,” explained Lizbeth Mellin, MD, assistant professor of pediatrics and clinical geneticist at University of Florida Health Jacksonville.
At what point does a neurologist encounter patients with Fabry disease? “Patients with Fabry disease are usually treated by rheumatologists and other specialists before they find a neurologist,” Dr. Mellin said. “Or they may see the neurologist for transient ischemic attacks or stroke, or for treatment of headaches, vascular dementia, dizziness or vertigo, hearing loss, seizures, hemiplegia, or aphasia.
“Almost 80% of adults with Fabry disease have distal neuropathic pain characterized by acroparesthesias and sensory loss starting in the palms of the hands or the soles of the feet, spreading to the entire body, and lasting for hours or days.
Dr. Lizbeth Mellin
Dr. Mellin continued: “Neurologists play a critical role in treating manifestations such as neuropathic pain, stroke, and seizure. Without a current curative treatment for Fabry disease, the goals of its management are focused on treating manifestations and maintaining organ function, optimizing quality of life, and preserving life expectancy.”
What role does the neurologist play in ongoing management of Fabry disease? “Neurologists are involved in primary and secondary stroke prevention and pain management,” Dr. Rastogi explained, “and in diagnosing possible Fabry disease when they find cryptogenic stroke, especially in younger patients; when screening family members; and when reaching out to other appropriate Fabry providers.
“Primary care providers, geneticists, and, sometimes, nephrologists may manage the patient’s overall care. We send our patients to neurologists to evaluate and manage neuropathic pain, stroke, white-matter lesions, and cerebrovascular disease. After a stroke, a support team cares for the patient and manages the rehab.
“Neurologists tend to have organ-specific involvement, and they may treat pain. They may have their first encounter with the patient when they do nerve testing, brain scans, or other tests, or when they diagnose nervous system problems that they may continue to treat.”
How does the role of the neurologist complement others on the interdisciplinary care team? “Fabry requires management by specialists familiar with the multiple aspects of the disorder,” Dr. Raymond said. “As a geneticist and neurologist, I care for a broad portfolio of lysosomal storage diseases. Usually, a metabolic genetics center or a Fabry center will handle the therapy. Fabry requires a multidisciplinary approach, and someone needs to be quarterbacking the patient’s overall management.”
“Teamwork is about patient well-being and empowerment,” Dr. Mellin pointed out. “Patients with Fabry disease require multidisciplinary care to reduce their morbidity and improve their health-related quality of life. Early diagnosis and treatment are critical to preventing irreversible organ damage and failure. Patients with stroke are usually evaluated in a hospital setting. To protect major organs from progressive damage, the differential diagnosis must include Fabry disease.”
“It’s important to provide coordinated care to the entire patient, not only the affected organ,” Dr. Rastogi pointed out. “Taking care of patients with Fabry disease is difficult, complicated, and time-consuming. Academic programs have various specialties under the same umbrella, so it’s easier to coordinate care than in private practice. In private practice, the neurologist needs to reach out to other specialists to coordinate care. “An interdisciplinary team approach, with integrative care in which the team members communicate with each other, is very important. The team may include geneticists, pediatricians, nephrologists, cardiologists, neurologists, gastroenterologists, and a pain management team that may use biofeedback and other non-opioid approaches. The interdisciplinary UCLA Fabry Disease Program addresses almost every aspect of Fabry. As a nephrologist, I oversee the entire care of the patient, not just the kidneys.
“Some medical practices may have only three to five patients, with a geneticist leading the care team. In others, the primary care physician oversees and coordinates care with a neurologist, nephrologist, cardiologist, pain specialist, and other specialists. Patients are often anxious and depressed, so a psychologist and psychiatrist should also be involved.
“A neurologist who diagnoses a patient with Fabry disease should contact their local Fabry disease experts. If none are available, they should refer their patients to geneticists to oversee their care. At-risk family members also need to be screened.”
Monroe Carell Jr. Children’s Hospital at Vanderbilt, in Nashville, Tenn., has a multidisciplinary Fabry Disease Clinic with specialists in genetics, neurology, and cardiology. Chelsea J. Lauderdale, DNP, MPH, APRN, CPNP-PC, in the division of medical genetics and genomic medicine, helps screen and diagnose patients with Fabry disease.
Chelsea J. Lauderdale
“A nurse practitioner in this setting may work closely with newborn screening and be involved in infant and adult diagnosis,” Ms. Lauderdale said. “They may identify the onset of new symptoms and aid specialists in their evaluations. Nurse practitioners may be involved throughout Fabry disease patients’ care, monitoring labs, ensuring they are treated by the appropriate specialists, and initiating treatment when indicated.”