A rare case of Crohn’s ileitis in a patient with constitutional mismatch repair deficiency

Pavlos Kaimakliotis, Francis M Giardiello, Ogechukwu Eze, Brindusa Truta

Research output: Contribution to journalArticle

Abstract

Constitutional mismatch repair deficiency (CMMRD), a variant of Lynch syndrome, is a rare disease characterized by café-au-lait spots, oligopolyposis, glioblastoma and lymphoma. A 24-year-old male, under surveillance for CMMRD, developed Crohn’s ileitis after total colectomy with end ileostomy for colorectal cancer and failed to respond to oral corticosteroids. The patient underwent induction and maintenance of remission with vedolizumab infusions. We report the first patient with CMMRD developing Crohn’s disease. The choice of immunosuppressive therapy in these patients is challenging and needs to be made according to their risk for malignancy.

Original languageEnglish (US)
Pages (from-to)370-372
Number of pages3
JournalAnnals of Gastroenterology
Volume30
Issue number3
DOIs
StatePublished - 2017

Fingerprint

Ileitis
Hereditary Nonpolyposis Colorectal Neoplasms
Remission Induction
Ileostomy
Colectomy
Glioblastoma
Immunosuppressive Agents
Rare Diseases
Crohn Disease
Colorectal Neoplasms
Lymphoma
Adrenal Cortex Hormones
Maintenance
Turcot syndrome
Neoplasms
Therapeutics

Keywords

  • Constitutional mismatch repair deficiency
  • Crohn’s disease
  • Familial cancer
  • Vedolizumab

ASJC Scopus subject areas

  • Gastroenterology

Cite this

A rare case of Crohn’s ileitis in a patient with constitutional mismatch repair deficiency. / Kaimakliotis, Pavlos; Giardiello, Francis M; Eze, Ogechukwu; Truta, Brindusa.

In: Annals of Gastroenterology, Vol. 30, No. 3, 2017, p. 370-372.

Research output: Contribution to journalArticle

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