Osler-Weber-Rendu Syndrome with Severe Hepatic Manifestations: A Rare Clinical Case

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

Section: Discussionmentioning

confidence: 99%

“…Additionally, multiple or large lesions of hepatic arteriovenous malformations can lead to significant complications, including hepatic encephalopathy, biliary ischemia, liver failure, and so on. [17] HAVM treatment mainly includes interventional treatment and surgical resection. Several molecular targeted drugs, such as the anti-VEGF inhibitor bevacizumab, are reported to improve the increased cardiac output due to HAVMs.…”

Section: Discussionmentioning

confidence: 99%

Hemorrhage and necrosis of the liver caused by hepatic arteriovenous malformations in a fetus: A case report

Bian¹,

Yuan²,

Yuan³

2023

Medicine

Rationale: Hepatic arteriovenous malformations (HAVMs) are a rare disorder reported in association with hereditary hemorrhagic telangiectasia (HHT), known as Rendu-Osler-Weber syndrome. HAVMs are usually detected in adulthood. Patient concerns: A 29-year-old pregnant woman underwent a routine prenatal examination at 37 weeks of pregnancy. Diagnosis and interventions: There were fetal liver anomalies detected by prenatal ultrasonography and were managed. Furthermore, a hepatic mass was detected and was subsequently analyzed by fetal magnetic resonance imaging. There were no typical imaging findings in this case which was once misdiagnosed as a hepatoblastoma. Outcomes: Considering the massive hepatic lesion, labor induction was performed on a pregnant woman to avoid adverse maternal and fetal outcomes. Histopathological examination confirmed the diagnosis of HAVMs. Lesions detected by imaging were determined to be hemorrhagic and necrotic. Lessons: Prenatal hepatic hemorrhage and necrosis due to an arteriovenous malformation are rare. The authors describe their observations and results.

Journal of Diagnostic Medical Sonography

Heart Failure Due to Liver Involvement of Hereditary Hemorrhagic Telangiectasia, Diagnosed by Point-of-Care Ultrasonography

Cheong

2022

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare inherited disorder characterized by the presence of systemic arteriovenous malformations, which most commonly affects the liver. One of the most serious complications of liver compromise is high output heart failure (HOHF). In this case study, point-of-care ultrasonography is utilized as a means to describe the diagnostic findings of an intensive care unit patient diagnosed with liver involvement of HHT and the development of HOHF.