Despite the recent advancements in understanding the genetic mechanisms and establishing the diagnostic criteria, diagnosis of HHT is often delayed [11]. It is estimated that one third of patients wait 1–5 years and 15% of patients wait 6 years or more for a correct diagnosis [12]. Timely diagnosis is essential for preventing and managing visceral complications and promoting adequate genetic testing and counselling for patients and families.
The patient’s presenting symptom determines the course of treatment for HHT. Sclerotherapy, oral tranexemic acid, nasal lubrication, or surgical ablation are all options for treating epistaxis. Liver AVMs should get treated only when there is symptomatic liver failure or high output cardiac failure. The preferred course of treatment for refractory cases is liver transplantation. Endoscopic electrocauterization is used when there is gastrointestinal AVM hemorrhage. Serious cases of iron deficiency anemia are treated with blood transfusions and iron replacement. Tranexamic acid is administered intravenously or orally to treat refractory bleeding [13, 14]. Here, we describe a case of definite HHT presented with severe anemia and high-output heart failure requiring frequent blood transfusions.