Rare manifestations in a case of Osler-Weber-Rendu disease

Farkouh

Clin Med Insights Case Rep

et al. 2023

Background: Blue Rubber Bleb Nevus syndrome (BRBNS) is a rare disorder, that results in congenital cutaneous hemangiomas of the skin and gastrointestinal tract. Although asymptomatic, the nevi present as soft, non-mobile, dark blue, compressible papules. Clinically it presents as iron deficiency anemia due to occult gastrointestinal bleeding. Case presentation: A 22-year-old female patient presented with complaints of shortness of breath, fatigue, and palpitation for 2 months. On examination, she had a pale effect and widespread hemangiomas on her lips, hands, and feet. Laboratory results revealed iron deficiency anemia with hemoglobin (Hb) of 2.1 gm/dl and histopathology results of the hemangioma specimen showed angiokeratomas. Based on clinical manifestations and laboratory results, the patient was diagnosed with a case of BRBNS. The patient was transfused with red cell concentrate her symptoms improved but on the first follow-up visit her Hb again dropped to 8.6 mg/dl. Conclusion: A high suspicion of BRBNS diagnosis should be considered if a patient presents with iron deficiency anemia and multiple cutaneous hemangiomas. Further screening should be done to explore internal bleeding and hemangiomas.

Section: Discussionmentioning

confidence: 99%

Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report

Farkouh

Clin Med Insights Case Rep

et al. 2023

“…Although it is generally considered that AVMs in the setting of HHT are congenital, a recent report documented a de novo brain AVM (57). Even though the risk of bleeding of brain AVMs has been found to be lower in comparison to sporadic AVMs, there have been reports of subdural hematoma as a presenting symptom of HHT (58).…”

Section: Discussionmentioning

confidence: 99%

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature

Ionescu¹,

Edwin²,

Saikia³

et al. 2018

chr

M.I. Ionescu et al în literatură. Mai mult decât atât, reprezintă de asemenea primul caz de anastomoză arterială latero-terminală efectuată în cursul unui TH la un pacient cu THE. Lucrarea noastră demonstrează că această abordare este atât fezabilă din punct de vedere tehnic, cât şi sigură în context clinic. Cuvinte cheie: telangiectazie hemoragică ereditară, sindromul neoplaziei endocrine multiple tip 1, transplant hepatic ortotopic

“…It is followed by cutaneous telangiectasias (75%). 4,5 The vascular malformations may involve lungs, liver, kidney, and brain may also seen. Portal venous hypertension is reported in less than 10% of subjects with OWRS and this account for increased mortality rate.…”

Section: Introductionmentioning

confidence: 99%

A case of Osler-Weber-Rendu syndrome associated with portal hypertension

et al. 2022

Osler-Weber- Rendu syndrome is a rare autosomal dominant vascular disorder, characterised by multiple telangiectases of the skin and mucous membranes with recurrent nasal and gastrointestinal bleedings and arteriovenous malformations of various organ systems. It is also called as hereditary hemorrhagic telangiectasia (HHT). The occurrence of telangiectases in the stomach and small bowel can result in chronic bleeding and anaemia. We report a rare case of 39 year old female with Osler Weber Rendu syndrome associated with portal hypertension. She had recurrent nasal and gastrointestinal bleeding, and presented with complaints of progressive dyspnea NYHA class III. On further evaluation she was found to have portal hypertension, which is a rare association.