What is Trichohepatoenteric Syndrome (THES)?
Trichohepatoenteric Syndrome (THES) is a very rare genetic condition that mainly influences the hair (tricho), liver (hepato), and intestines (enteric). It mainly influences infancy and causes very severe diarrhea, liver damage, and characteristic hair deformities. The illness results from mutations in the TTC37 and SKIV2L genes, which are utilized by the metabolic and immune systems.
Trichohepatoenteric Syndrome Causes
THES is an autosomal recessive condition, and thus both parents have to be carriers of a mutated gene copy in order to pass the condition to the child. The main causes are:
- Mutations in the SKIV2L and TTC37 genes, which disrupt protein synthesis and immune function
- Genetic inheritance, inherited from both parents
- Disruption of the exosome complex, which is involved in RNA degradation and cellular function
Trichohepatoenteric Syndrome Symptoms
The signs of THES are evident in infancy and can be:
- Chronic, intractable diarrhea with severe malnutrition
- Failure to thrive, with weight gain and growth retardation
- Liver abnormalities, such as cirrhosis and hepatomegaly
- Typical hair abnormalities, such as thinning, brittle, or breakable hair
- Facial dysmorphism, such as high forehead and wide-set eyes
- Immune system dysfunction, with susceptibility to infections
- Developmental delays and neurological abnormalities
Trichohepatoenteric Syndrome Diagnosis
Diagnosis of THES is made by:
- Genetic screening for the diagnosis of mutations in TTC37 and SKIV2L
- Clinical evaluation for signs and symptoms such as chronic diarrhea, liver illness, and changes in hair
- Liver biopsy, if required, to follow-up for hepatic damage
- Assessment of immune system and nutrition to identify infection and deficiencies
Trichohepatoenteric Syndrome Treatment
It is not standard treatment and is aimed at symptomatic control only:
- Nutritional therapy: Specific diet or intravenous nutrition (parenteral nutrition) to maintain malabsorption under control
- Liver management: Medications for preserving liver function and avoiding the formation of fibrosis
- Regulation of the immune system: Regular checking to avoid infections
- Symptomatic treatment: Anti-diarrheal medication, vitamins, and supportive treatment
Homeopathy and Trichohepatoenteric Syndrome
Homeopathy provides an alternative means of treating symptoms of THES to enhance digestion, liver function, and immunity.
Main Homeopathic Medicine for THES
- China Officinalis – Helps in the treatment of chronic diarrhea and dehydration.
- Chelidonium Majus – Maintains liver function and eliminates jaundice symptoms.
- Lycopodium Clavatum – Enhances digestion and treats failure to thrive.
- Silicea – Tones immunity and fortifies brittle hair.
- Phosphorus – Enhances liver function and prevents further liver injury.
- Natrum Muriaticum – Maintains electrolyte balance and treats malabsorption.
Why Homeopathy for THES?
- Gentle and holistic: Safe for infants and children.
- Improves overall health: Enhances digestion, immunity, and nutrient absorption.
- Supports liver function: Prevents further hepatic injury.
- Complements conventional treatments: Can be used in conjunction with medical interventions.
Frequently Asked Questions About THES
- Is Trichohepatoenteric Syndrome fatal?
THES is fatal because of the risk of fatal diarrhea and liver issues. Life expectancy, however, will increase with early diagnosis and treatment.
- Can THES be cured?
No cure for THES yet, but dietary supplements, symptom relief, and homeopathy can contribute a lot towards quality of life.
- How is THES inherited?
THES is inherited in an autosomal recessive pattern, so both parents must pass on a defective gene to make a child ill.
- Can homeopathy take the place of conventional treatment for THES?
No, homeopathy is an adjunct therapy and should only be used in conjunction with medical management to enhance overall well-being.
- What is the life expectancy of children with THES?
Life expectancy depends on severity and management. Children with proper nutrition, medical care, and alternative therapies such as homeopathy have improved survival rates.
Final Thoughts
THES is a tough disorder, but with prompt treatment, diet, and holistic modalities such as homeopathy, the affected children can have improved quality of life. Dr. Vaseem Choudhary and his team of experts at Homeo Care Clinic provide individualized homeopathic therapy to control THES symptoms effectively.
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