Fatal gastrointestinal bleeding in a case report of Coat's plus syndrome

Mohammed Jeraq, Valerie Armstrong, Grigoriy Klimovich, Krishnamurti Amrit Rao, Patricia Byers

Research output: Contribution to journalArticle

Abstract

Introduction: Coat's plus syndrome is an extremely rare genetic syndrome that leads to a variety of symptoms. We are reporting a case of Coat's plus syndrome that had persistent GI bleeding and review of current literature. Presentation of case: The patient is a female in her 40 s with a history of coat's disease and end stage renal failure on dialysis. The etiology of renal failure was not discovered, and the patient was being worked up for a kidney transplant. The patient required admission after deterioration of nutritional status with a BMI of 14.3. During admission the patient initially had intermittent GI bleeding requiring weekly blood transfusions. On work up of the GI bleed, no etiology was identified either. As a result persistent negative GI bleed work up, we pursued alternative diagnoses. The history of Coat's disease prompted us to work up the patient for Coat's plus syndrome. A genetic test confirmed the presence of CTC-1 gene mutation, which results in Coat's plus syndrome. With no treatment available as of yet, the patient continued to deteriorate into multi-organ failure. Discussion: We present an example of GI bleeding in Coat's plus syndrome, only identified thru genetic testing, that is very rare and complex in nature. Despite numerous workups, no specific etiology was identified for the GI bleeding. Conclusion: Previous reports have not investigated cause of GI bleeding, since it is extremely rare in the literature. Further investigation is warranted to understand cause and effects of GI bleeding in this rare genetic disease.

Original languageEnglish (US)
Pages (from-to)233-235
Number of pages3
JournalInternational Journal of Surgery Case Reports
Volume66
DOIs
StatePublished - 2020

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Hemorrhage
Retinal Telangiectasis
Patient Admission
Inborn Genetic Diseases
Genetic Testing
Rare Diseases
Nutritional Status
Blood Transfusion
Chronic Kidney Failure
Renal Insufficiency
Cerebroretinal Microangiopathy with Calcifications and Cysts
Dialysis
History
Transplants
Kidney
Mutation
Genes
Therapeutics

Keywords

  • Case report
  • Coat's
  • Coat's syndrome
  • Gastrointestinal bleeding
  • Lower gastrointestinal bleed
  • Upper gastrointestinal bleed

ASJC Scopus subject areas

  • Surgery

Cite this

Fatal gastrointestinal bleeding in a case report of Coat's plus syndrome. / Jeraq, Mohammed; Armstrong, Valerie; Klimovich, Grigoriy; Rao, Krishnamurti Amrit; Byers, Patricia.

In: International Journal of Surgery Case Reports, Vol. 66, 2020, p. 233-235.

Research output: Contribution to journalArticle

Jeraq, Mohammed ; Armstrong, Valerie ; Klimovich, Grigoriy ; Rao, Krishnamurti Amrit ; Byers, Patricia. / Fatal gastrointestinal bleeding in a case report of Coat's plus syndrome. In: International Journal of Surgery Case Reports. 2020 ; Vol. 66. pp. 233-235.
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