What is Bradbury-Eggleston Syndrome & How is it Treated?
Bradbury-Eggleston Syndrome was first described in 1925 and is named after its two discoverers. It is known by other different names as Pure Autonomic Failure (PAF) and as Idiopathic Orthostatic hypotension.
What is Bradbury-Eggleston Syndrome?
Bradbury-Eggleston Syndrome is a sporadic degenerative disorder of the Autonomic Nervous System (ANS). This affects the processes controlled by the Autonomic Nervous System. Bradbury-Eggleston syndrome commonly leads to malfunction in controlling the blood pressure. There are no associated neurological signs and is characterized by low levels of norepinephrine production. The exact cause of Bradbury-Eggleston Syndrome is not known and is termed to be an Autoimmune Disorder. Although, it is not fatal and there is no known treatment available for Bradbury-Eggleston Syndrome yet.
Symptoms of Bradbury-Eggleston Syndrome
There are a variety of symptoms associated with Bradbury-Eggleston syndrome as follows:
- The main symptom of Bradbury-Eggleston Syndrome is excessive decrease in blood pressure or orthostatic hypotension, especially when the patient is standing (upright position). There is a drop of >20 mmHg systolic pressure or 10 mm diastolic pressure or both.
- Light headiness.
- Dizziness or faintness.
- Syncope (loss of consciousness).
- Visual disturbances.
- Decrease in sweating (hypohidrosis). It leads to hyperthermia, heat exhaustion and heat stroke.
- Neck pain.
- Respiratory disturbances (difficulty in breathing).
- Lower basal metabolic rate (BMR).
- In case of men, there is erectile dysfunction.
- Urinary inconsistency since urine is retained.
- Constipation or difficulty in controlling bowel movements.
- Less commonly observed symptoms include chest pain and tiredness.
These symptoms of Bradbury-Eggleston Syndrome are more pronounced in the morning, after eating, after performing exercises, in hot weather and at high altitudes. They become worse when the person is walking, standing or after eating. However, the symptoms of Bradbury-Eggleston Syndrome may be relieved by lying down.
Epidemiology of Bradbury-Eggleston Syndrome
The worldwide prevalence of Bradbury-Eggleston Syndrome's is not known. The age of onset is during adulthood and death occurs only in elderly. Bradbury-Eggleston Syndrome affects adults in age above 35 to 40 years. It is more prevalent in males than in the females.
Prognosis of Bradbury-Eggleston Syndrome
Bradbury-Eggleston Syndrome shows good prognosis. Although it occurs in age above 35 years, the symptoms of Bradbury-Eggleston Syndrome show slow progression. Patients usually survive for 20 years and death occurs only above 80 years of age. In addition, it can be managed by nonspecific medical interventions and lifestyle changes. Patients with Bradbury-Eggleston syndrome experience death due to respiratory infections.
Causes of Bradbury-Eggleston Syndrome
The exact cause of Bradbury-Eggleston Syndrome is not known. It is speculated to be caused due to the damage of the nerve cells in the spinal cord. There is accumulation of Alpha-Synuclein, which damages brain cells over a period of time and leads to dementia.
Pathophysiology of Bradbury-Eggleston Syndrome
The autonomic nervous system is made of nerves that control the necessary actions, which are required for our survival. These include the blood pressure, heart rate, sweating and digestion of the food. Autonomic dysfunction results in problems with autonomic nervous system, which leads to dysfunctions in controlling functions of essential processes. It can affect a small part or the entire Autonomic nervous system and is manifested in the form of symptoms. The exact underlying pathology is yet to be elucidated by the researchers.
Diagnosis of Bradbury-Eggleston Syndrome
The doctor conducts physical examination and records medical history of illness. Diagnosis is done by exclusion of other disorders since no single test can confirm diagnosis.
The norepinephrine level is usually <100 pg/mL in lying down condition and does not increase in upright position. Orthostatic hypotension and denervation supersensitivity is checked.
Specific tests for PAF which are carried out in laboratory include:
- Ewing test.
- Pupillary function.
- Sudoral function.
- Analysis of heart rate and blood pressure variability.
- Sympathetic microneurography.
- MIBG scintigraphy.
- The EMG and cerebral MRI/CT are normal. Examinations to identify an immunologic, deficiency, metabolic or toxic cause are negative.
Treatment of Bradbury-Eggleston Syndrome
There is no specific treatment for relieving the symptoms of Bradbury-Eggleston Syndrome. Thus treatment for Bradbury-Eggleston Syndrome focuses on decreasing the effects of these symptoms.
The non-drug treatment to increase blood pressure in Bradbury-Eggleston Syndrome patients includes:
- To increase fluid and salt intake.
- Frequent meals.
- Wear compression stocking and abdominal binders.
- Sitting cross legs.
- To avoid prolonged intake of alcohol and being in warm environment
The drug treatment for Bradbury-Eggleston Syndrome includes:
- Midodrine (an alpha-adrenergic agonist).
- Fludrocortisone (a hypokalemic mineralocorticoid).
- The efficacy of other drugs needs to be proved in clinical trials.
Bradbury-Eggleston Syndrome is a rare disorder. It is associated with a number of symptoms, which are not fatal in the initial stages. The pathophysiology underlying this syndrome needs to be understood very well. This will enable prescribing appropriate drugs to treat Bradbury-Eggleston Syndrome effectively.