Management of Syndromic Diarrhea/tricho-hepato-enteric Syndrome: A Review of the Literature

Overview

Journal Intractable Rare Dis Res

Date 2017 Sep 26

PMID 28944135

Citations 18

Authors

Alexandre Fabre

Patrice Bourgeois

Marie-Edith Coste

Celine Roman

Vincent Barlogis

Catherine Badens

Affiliations

Soon will be listed here.

Abstract

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of , 14 of . Parenteral nutrition was used in the management of 83% of the patients and weaned in 44% (mean duration of 14.97 months). Immunoglobulins were used in 33 patients, but data on efficacy was reported for 6 patients with a diminution of infection ( = 3) or diarrhea reduction ( = 2). Antibiotics ( = 11) provided no efficacy. Steroids ( = 17) and immunosuppressant drugs ( = 13) were used with little efficacy and mostly in patients with IBD-like SD/THE. Hematopoietic stem cell transplantation (HSCT) was performed in 4 patients: 2 died, for one it corrected the immune defects but not the other features and for the last one, it provided only a partial improvement. Finally, no specific diet was effective except for some contradictory reports for elemental formula. In conclusion, the management of SD/THE mainly involves parenteral nutrition and immunoglobulin supplementation. Antibiotics, steroids, immunosuppressants, and HSCT are not recommended as principle treatments since there is no evidence of efficacy.

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