Unhappy triad

Tricho-hepato-enteric syndrome (THE-s) is a rare and complex disease that affects many parts of the body, particularly the hair (tricho-), liver (hepato-), and intestines (enteric). This condition is characterized by chronic diarrhea and liver disease, which can lead to severe complications if not properly managed.

Symptoms

The most common symptoms of THE-s include:

• Chronic diarrhea, which often begins in infancy
• Liver disease, which can lead to cirrhosis and liver failure
• Woolly and brittle hair, which is often sparse and easily broken
• Growth delay, both in the womb and after birth
• Intellectual disability, which can range from mild to severe

Causes

THE-s is caused by mutations in the TTC37 or SKIV2L genes. These genes provide instructions for making proteins that are part of a complex involved in the degradation of certain types of RNA, a molecule that is a chemical cousin of DNA. Mutations in either of these genes disrupt the function of this complex, leading to the varied symptoms of THE-s.

Diagnosis

Diagnosis of THE-s is based on the presence of characteristic symptoms and confirmed by genetic testing. This testing can identify mutations in the TTC37 or SKIV2L genes.

Treatment

Treatment of THE-s is focused on managing the symptoms and preventing complications. This may include nutritional support for chronic diarrhea and medications to manage liver disease. In severe cases, a liver transplant may be necessary.

Prognosis

The prognosis for individuals with THE-s varies. Some individuals have a mild form of the disease and live into adulthood, while others have a severe form of the disease and may not survive past infancy.

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