UNUSUAL PRESENTATION OF BLUE RUBBER BLEB NEVUS SYNDROME WITH MULTIORGAN INVOLVEMENT AND SUCCESSFUL mTOR INHIBITOR THERAPY

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UNUSUAL PRESENTATION OF BLUE RUBBER BLEB NEVUS SYNDROME WITH MULTIORGAN INVOLVEMENT AND SUCCESSFUL mTOR INHIBITOR THERAPY

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Co-author 1

Dr Param Kadam paramkadam7@gmail.com Lifeline hospital Medicine Mumbai India -

Co-author 2

Dr Vidya Kadam vidya.kadam1974@gmail.com Lifeline Hospital Nephrology Mumbai India *

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Introduction

Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare vascular malformation disorder characterized by multifocal venous malformations in the skin and internal organs. The commonest clinical manifestation is gastrointestinal bleeding leading to chronic anemia. This case highlights a rare presentation involving genitourinary, gastrointestinal, musculoskeletal, and vascular system, with therapeutic response to Everolimus.

Methods

A 36 year-old female came with gross hematuria, generalized weakness, and dyspnea. On clinical examination she had multiple compressible bluish cutaneous lesions. Diagnostic work-up included cystoscopy, CT angiography, hysteroscopy, GI endoscopies, and hematologic investigations. A diagnosis of BRBNS was made based on the presence of characteristic venous malformations across multiple organ systems.

Results

Initial management involved parenteral iron and blood transfusions. Persistent hematuria was treated with cystoscopy and sclerotherapy of the blebs.Endoscopies revealed multiple submucosal venous blebs. The patient was started on Everolimus 0.5 mg BID. Over six months of follow-up, her hemoglobin stabilized between 9.5–11 g/dL, avoiding further transfusions or hospitalizations.

Conclusion

This case underscores the importance of a high index of suspicion and comprehensive diagnostic approach in BRBNS, especially with atypical bleeding sites like genitourinary tract. mTOR inhibitors such as Everolimus may be an effective long-term treatment strategy to reduce morbidity in patients with extensive visceral involvement.

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