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.