Summary about Disease
Yucatan familial dysautonomia (YFD), also known as hereditary sensory and autonomic neuropathy type III (HSAN III), is a rare genetic disorder that primarily affects people of Ashkenazi Jewish descent. It impacts the development and function of the autonomic nervous system and sensory nervous system. This leads to a wide range of symptoms affecting various bodily functions, including breathing, swallowing, digestion, temperature regulation, and pain and temperature sensation. There is no cure, and management focuses on treating symptoms and preventing complications.
Symptoms
Symptoms vary widely in severity and presentation but can include:
Feeding difficulties: Poor suck, swallowing problems, vomiting, aspiration.
Respiratory problems: Frequent respiratory infections, breath-holding spells, aspiration pneumonia.
Temperature instability: Difficulty regulating body temperature, leading to fever or hypothermia.
Blood pressure instability: Episodes of high or low blood pressure.
Gastrointestinal problems: Constipation, diarrhea, abdominal pain.
Absent or reduced pain and temperature sensation: Increased risk of injury.
Orthostatic hypotension: Dizziness or fainting upon standing.
Skeletal abnormalities: Scoliosis.
Speech difficulties.
Eye problems: Decreased tear production, corneal ulceration.
Kidney problems.
Causes
YFD is caused by mutations in the ELP1 gene (also known as *IKBKAP*) located on chromosome 9. This gene provides instructions for making a protein that plays a crucial role in the development and function of the nervous system. Individuals with YFD inherit two copies of the mutated gene, one from each parent.
Medicine Used
There is no specific cure for YFD. Medications are used to manage symptoms and prevent complications:
Medications for blood pressure regulation: Midodrine, fludrocortisone.
Medications for gastrointestinal problems: Stool softeners, anti-diarrheal medications, prokinetics.
Medications for respiratory problems: Antibiotics for infections, bronchodilators, oxygen therapy, CPAP or BiPAP.
Eye lubricants: Artificial tears to prevent corneal damage.
Pain relievers: Use with caution due to reduced pain sensation.
Enzymes, Electrolytes and high-caloric supplements: Often needed due to absorption problems
Anti-reflux medications: Needed due to aspiration risk.
Is Communicable
No, YFD is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Precautions focus on managing the specific symptoms and preventing complications:
Feeding precautions: Modified feeding techniques, thickened liquids, gastrostomy tube (G-tube) feeding may be necessary.
Respiratory precautions: Avoiding respiratory irritants, frequent monitoring for respiratory infections, vaccinations, chest physiotherapy.
Temperature regulation: Avoiding extreme temperatures, monitoring body temperature, using appropriate clothing.
Injury prevention: Protecting from burns and other injuries due to reduced pain sensation.
Eye care: Regular eye exams, using artificial tears, protecting eyes from injury.
Regular medical checkups: Monitoring for complications and adjusting treatment as needed.
Caregiver education: Caregivers need to be educated about the specific needs of the affected individual.
How long does an outbreak last?
YFD is not an infectious disease that has "outbreaks." It is a chronic, genetic condition that is present from birth and lasts throughout the individual's life. Symptoms can fluctuate in severity over time, but there are no outbreaks in the traditional sense.
How is it diagnosed?
Diagnosis typically involves:
Clinical evaluation: Assessing symptoms and medical history.
Genetic testing: Identifying mutations in the ELP1 gene.
Specific tests: Histamine test, tilt table test.
Timeline of Symptoms
Infancy: Feeding difficulties, respiratory problems, temperature instability often present from birth or early infancy.
Childhood: Delayed motor and speech development, scoliosis, eye problems become more apparent.
Adulthood: Symptoms persist and may worsen over time. Complications such as kidney problems can develop.
Important Considerations
Multidisciplinary care: Management requires a team of specialists, including neurologists, gastroenterologists, pulmonologists, ophthalmologists, and geneticists.
Family support: YFD can be emotionally challenging for families. Support groups and genetic counseling can be helpful.
Research: Ongoing research is aimed at understanding the disease and developing new treatments.
Severity: Symptom severity can vary greatly from person to person.
Prognosis: The prognosis varies depending on the severity of the symptoms and the success of management strategies.