Treatment Overview
Living with familial dysautonomia, a rare genetic disorder affecting the autonomic nervous system, presents a unique and often challenging reality. Simple bodily functions that most people take for granted like swallowing, producing tears, or regulating blood pressure can become daily obstacles. For families navigating this condition, the unpredictability of “autonomic crises,” characterized by sudden spikes in blood pressure, sweating, and vomiting, adds a layer of constant vigilance to daily life. Treatment is essential not only to manage these distressing symptoms but also to protect the lungs from aspiration and the eyes from damage due to a lack of tears.
Because familial dysautonomia affects multiple body systems simultaneously, care is complex and requires a multidisciplinary approach. There is currently no cure, so the focus shifts to supportive care and crisis prevention. Treatment plans are highly personalized, adapting as the patient grows and as specific symptoms such as spinal curvature or blood pressure instability evolve over time (National Institute of Neurological Disorders and Stroke, 2024).
Overview of treatment options for Familial Dysautonomia
The primary goal of treatment is to stabilize the autonomic nervous system and prevent complications. This involves a proactive strategy to maintain blood pressure, ensure proper nutrition through safe feeding techniques, and protect the eyes.
Medical management is split into two main categories: daily maintenance therapy to keep the body stable and acute intervention to treat autonomic crises. While physical therapies and sometimes surgical interventions (like feeding tubes) play a major role, medications are the primary tool used to regulate the nervous system’s erratic firing. The approach is preventative, aiming to stop a crisis before it spirals out of control.
Medications used for Familial Dysautonomia
Doctors use a combination of medications to address the wide array of symptoms, focusing heavily on blood pressure regulation and crisis management.
Benzodiazepines are frequently used as a central component of crisis management. Medications such as diazepam are often prescribed when a patient shows the first signs of an autonomic crisis, such as retching or agitation. Clinical experience suggests that administering these medications early can calm the nervous system and prevent the episode from becoming severe.
Alpha-adrenergic agonists are another key class of drugs used to manage stability. Clonidine is commonly prescribed to help regulate blood pressure and reduce the excessive sweating and agitation associated with crises. It helps dampen the overactive nerve signals that cause these symptoms.
Mineralocorticoids are used to address orthostatic hypotension, which is a sudden drop in blood pressure when standing. Fludrocortisone helps the body retain salt and fluids, increasing blood volume to keep pressure stable during movement.
Artificial tears and ocular lubricants are non-negotiable daily treatments. Since patients with familial dysautonomia produce little to no natural tears, frequent application of preservative-free drops and ointments is required to prevent corneal scratching and vision loss.
How these medications work
The medications used for familial dysautonomia function by artificially regulating the signals that the damaged nervous system cannot control.
Benzodiazepines enhance GABA’s effect in the brain, creating a sedating and calming effect on the central nervous system to quiet erratic nerve signals that trigger vomiting and panic.
Clonidine stimulates specific brain stem receptors, reducing nerve impulses that constrict blood vessels and increase heart rate. This lowers high blood pressure and reduces physical stress symptoms.
Fludrocortisone mimics an adrenal hormone, signaling kidneys to retain sodium and, consequently, water. This increases blood volume, aiding in blood pressure maintenance against gravity.
Side effects and safety considerations
Managing these powerful medications requires careful observation, as patients with familial dysautonomia are often more sensitive to drug side effects.
Benzodiazepines and clonidine can cause excessive drowsiness, dizziness, or mood changes, increasing aspiration risk in patients who already have difficulty protecting their airways.
Fludrocortisone risks supine hypertension (high blood pressure when lying down) and low potassium. Regular monitoring of blood pressure in different positions and electrolyte checks are crucial.
Immediate medical care is needed if a crisis does not respond to home medication, high fevers occur, or signs of aspiration pneumonia (like difficulty breathing) appear.
Since everyone’s experience with the condition and its treatments can vary, working closely with a qualified healthcare provider helps ensure safe and effective care.
References
- National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov
- Familial Dysautonomia Foundation. https://familialdysautonomia.org
- National Organization for Rare Disorders. https://rarediseases.org
- MedlinePlus. https://medlineplus.gov
Medications for Familial Dysautonomia
These are drugs that have been approved by the US Food and Drug Administration (FDA), meaning they have been determined to be safe and effective for use in Familial Dysautonomia.