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Fatal gastrointestinal bleeding in a case report of Coat's plus syndrome
Mohammed Jeraq1, Valerie Armstrong1, Grigoriy Klimovich1
1Dewitt Daughtry Family Department of Surgery, Division of Trauma, Burns, and Critical Care, Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, FL, United States.
Insights
Coat's plus syndrome, a rare genetic disorder, can manifest with unexplained gastrointestinal bleeding. Genetic testing confirmed the diagnosis in a patient with end-stage renal failure, highlighting the need for further research into this rare condition.
Area of Science:
- Genetics
- Gastroenterology
- Rare Diseases
Background:
- Coat's plus syndrome is an extremely rare genetic disorder with diverse clinical manifestations.
- This case report focuses on a patient with Coat's plus syndrome presenting with persistent gastrointestinal (GI) bleeding.
Observation:
- A female patient in her 40s with end-stage renal failure and a history of Coat's disease experienced severe GI bleeding requiring transfusions.
- Extensive workup failed to identify an etiology for the GI bleeding.
- Genetic testing confirmed a CTC-1 gene mutation, diagnosing Coat's plus syndrome.
Findings:
- The case highlights GI bleeding as a rare and complex symptom of Coat's plus syndrome.
- The underlying cause of GI bleeding in this patient remained unidentified despite thorough investigation.
- Genetic confirmation was crucial for diagnosing Coat's plus syndrome.
Implications:
- This case underscores the importance of considering genetic testing for rare syndromes when facing unexplained symptoms like GI bleeding.
- Further research is warranted to elucidate the mechanisms and management of GI bleeding in Coat's plus syndrome.
- The findings contribute to the limited literature on Coat's plus syndrome, emphasizing its complex and multifaceted nature.
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.
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