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Hereditary Hemorrhagic Telangiectasia in a Sickle Cell Trait Patient: A Report of a Rare Case with Use of Nuclear Medicine, and a Literature Review

Challenging differential diagnosis, Diagnostic / therapeutic accidents, Management of emergency care, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Hye Chung Kang, Miguel Augusto Martins Pereira, Lucas Natã Lessa Silva, Lucas Caetano Oliveira, Igor Silva Márvila

Brazil Department of Pathology, Fluminense Federal University, Niterói, RJ, Brazil

Am J Case Rep 2020; 21:e923355

DOI: 10.12659/AJCR.923355

Available online: 2020-05-29

Published: 2020-07-02


#923355

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant disease.
CASE REPORT: Here, we report a case of a 49-year-old Brazilian woman with a history of multiple hospitalizations, sometimes life-threatening anemia, and uncommon clinical manifestations.
CONCLUSIONS: We provide a brief literature review regarding the most common signs and symptoms, history, diagnosis, and treatment. Special attention is given to the techniques for identifying hemorrhagic areas, to the presence of angiodysplasia in gastric tissue, and the identification of sickle cell trait, this being an unprecedented hematological condition in the presentation of the disease. Thus, further studies on the relationship between sickle cell trait and the syndrome are needed.

Keywords: Anemia, Anemia, Iron-Deficiency, Sickle Cell Trait, Telangiectasia, Hereditary Hemorrhagic



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