Trichohepatoenteric Syndrome | Symptoms & Causes
What are the symptoms of trichohepatoenteric syndrome?
The main symptom of trichohepatoenteric syndrome is chronic watery diarrhea that begins during the first few months of life and typically occurs multiple times a day. This syndromic diarrhea is hard to treat and can make it difficult for a child to gain weight or grow at the expected rate, even with nutritional support, a problem called failure to thrive.
Other signs and symptoms of trichohepatoenteric syndrome can include:
- hair that is brittle, wooly, patchy, and easy to pull out
- distinctive facial features such as a wide forehead, broad base of the nose, and widely spaced eyes
- swollen liver (hepatomegaly)
- liver damage (cirrhosis)
- weakened immune system and susceptibility to infections
- dry or rubbery skin
- heart abnormalities (less common)
- mild intellectual disabilities
Trichohepatoenteric syndrome can be life threatening in some children, particularly those with liver disease or severe infections.
What causes trichohepatoenteric syndrome?
Because trichohepatoenteric syndrome is so rare, there is still much we don’t know about this condition. However, it appears to be caused by mutations in either the TTC37 or SKIV2L gene. The parents of a child with trichohepatoenteric syndrome each carry one copy of the mutated gene but don’t usually have symptoms of the condition themselves.
Trichohepatoenteric Syndrome | Diagnosis & Treatments
How is trichohepatoenteric syndrome diagnosed?
Your child’s doctor may suspect trichohepatoenteric syndrome based on a physical examination and clinical history. They may also take a biopsy (tissue sample) of your child’s small intestine for evaluation. Genetic testing is needed to confirm a diagnosis of trichohepatoenteric syndrome.
How is trichohepatoenteric syndrome treated?
Care for children with trichohepatoenteric syndrome focuses on treating its symptoms. Such treatments depend on your child’s specific symptoms and may include:
- parenteral nutrition, which provides your child with intravenous nutritional support
- surveillance for nutritional deficiencies and intestinal inflammation
- immunoglobulin infusions to support your child’s immune system
- partial or total liver transplant in children with severe liver disease
How we care for trichohepatoenteric syndrome
At Boston Children’s Hospital, we care for children with trichohepatoenteric syndrome in our Congenital Enteropathy Program — one of just a few centers in the world that specializes in congenital diarrhea. We care for children with severe diarrhea who may have had multiple previous tests that failed to identify a cause, and who may have been hospitalized because of severe dehydration and malnutrition. Our team of skilled clinicians includes:
- gastroenterologists
- hepatologists
- nurses and nurse practitioners
- dietitians
- geneticists
- pathologists
- pharmacists
- social workers
We also partner very closely with the Home Parenteral Nutrition Program to provide additional resources for families whose children require parenteral nutrition. In addition, our team conducts ongoing research to improve our understanding of trichohepatoenteric syndrome and other causes of syndromic diarrhea.
