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

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

Journal: The American journal of case reports 2021;21():e923355

PMID: 32614805

Abstract

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.

Address: Department of Pathology, Fluminense Federal University, Niterói, RJ, Brazil.; Medical School, Fluminense Federal University, Niterói, RJ, Brazil.
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