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

Abstract

Patient: Female, 49-year-old

Final Diagnosis: Hereditary haemorrhagic telangiectasia

Symptoms: Anemia • dyspnea • epistaxis • lipothymia • melena • weakness

Medication:—

Clinical Procedure: Electrofulguration

Specialty: Gastroenterology and Hepatology • Genetics • Radiology

Objective:

Rare disease

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.