SUMMARY

 

1.  Trichohepatoenteric syndrome is a rare disease characterized by the following clinical features:

 

-Severe intractable diarrhea starting during infancy
-Villous blunting of small bowel
-Dysmorphic facial features 
-Hepatic cirrhosis
-Trichorrhesis nodosa 

 

2.  Immunologic abnormalities reported in patients include pancytopenia, low immunoglobulin levels, and absent specific antibody response. 

 

3.  The prognosis is quite poor with death occurring from malnutrition, cirrhosis or infections. 

 

4.  Nutritional support with parenteral nutrition may be required.  Patients with neutropenia due to pancytopenia may benefit from G-CSF therapy.  Immunoglobulin replacement therapy is a consideration for patients with low IgG or poor specific antibody response.  

 

                                                                                                                                       

 

                                                                       

OVERVIEW

 

    Trichohepatoenteric syndrome is a rare disease characterized by the following clinical features:

 

-Severe intractable diarrhea starting during infancy
-Villous blunting of small bowel
-Dysmorphic facial features (hypertelorism, prominent forehead, flat/broad nose)
-Hepatic cirrhosis
-Trichorrhesis nodosa (longitudinal breaks and breaks located at nodes at nodes of the hair shaft)

 

     Immunologic abnormalities reported in patients include pancytopenia, low immunoglobulin levels, and absent specific antibody response.  The prognosis is quite poor with death occurring from malnutrition, cirrhosis or infections. 

       

 

 

 

EVALUATION

 

The diagnosis of Trichohepatoenteric syndrome is made clinically based on the features of intractable diarrhea with villous blunting, cirrhosis, facial dysmorphism, and hair abnormalities.  All patients should have a baseline immune evaluation.

 

Step 1:  Immune Evaluation


-CBC with Differential
-Lymphocyte subset enumeration by flow cytometry (CD3, CD4, CD8, CD19, CD16/56)
-IgG, IgM, IgA, 
-Specific antibody responses to vaccine antigens

 

-Pancytopenia, low immunoglobulin levels and poor specific antibody responses have been reported in patients.

 

 

 

 

MANAGEMENT


     Nutritional support with parenteral nutrition may be required.  Patients with neutropenia due to pancytopenia may benefit from G-CSF therapy.  Immunoglobulin replacement therapy is a consideration for patients with low IgG or poor specific antibody response.