Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management

Abstract

Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood vessels may be small and cutaneous or mucosal (telangiectasia), with frequent complications of bleeding, or large and visceral (arteriovenous malformations [AVMs]), with additional risks that can lead to significant morbidity and even mortality. HHT can present in many different ways and can be difficult to recognize, particularly in younger patients in the absence of a known family history of disease or epistaxis, its most common manifestation. HHT is commonly diagnosed using the established Curaçao clinical criteria, which include (1) family history, (2) recurrent epistaxis, (3) telangiectasia, and (4) visceral AVMs. Fulfillment of 3 or more criteria provides a definite diagnosis of HHT, whereas 2 criteria constitute a possible diagnosis of HHT. However, these criteria are insufficient in children to rule out disease due to the age-dependent development of some of these criteria. Genetic testing, when positive, can provide definitive diagnosis of HHT in all age groups. Clinical course is often complicated by significant epistaxis and/or gastrointestinal bleeding, leading to anemia in half of adult patients with HHT. The management paradigm has recently shifted from surgical approaches to medical treatments aimed at control of chronic bleeding, such as antifibrinolytic and antiangiogenic agents, combined with aggressive iron replacement with intravenous iron. Guidelines for management of HHT, including screening and treatment, were determined by expert consensus and originally published in 2009 with updates and new guidelines in 2020.

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome

“…In the study by Sabbà et al, HHT2 patients seemed to show enhanced propensity to bleeding, although the underlying reason is still far from being elucidated [ 12 ]. Gastrointestinal telangiectasias is typically a late manifestation of HHT, usually occurring in the fifth decade or later, even though a few cases with a younger onset have been reported (including a few exceptional cases in pediatric age) [ 1 , 31 , 32 , 33 , 34 , 35 ].…”

Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease)

“…GI bleeding occurs in 13–30% of patients but rarely before age 50 years. 49 Arteriovenous malformations of HHT can occur throughout the GI tract, most commonly the stomach and proximal small intestine. AVMs of the skin and GI tract can occur later in life; therefore, HHT must be considered in adult patients with bleeding and multiple AVMs in the GI tract.…”

“…Therapy for suspected GI bleeding is based on the magnitude of the blood loss and is defined as (1) mild bleeding and hemoglobin maintained on oral iron; (2) moderate bleeding and hemoglobin maintained with IV iron; and (3) severe bleeding and unable to maintain hemoglobin with iron therapy and/or needs transfusions. 7,49,50…”

“…Therapy for suspected GI bleeding is based on the magnitude of the blood loss and is defined as (1) mild bleeding and hemoglobin maintained on oral iron; (2) moderate bleeding and hemoglobin maintained with IV iron; and (3) severe bleeding and unable to maintain hemoglobin with iron therapy and/or needs transfusions. 7,49,50 Treatment for mild suspected GI bleeding is oral antifibrinolytic agents. The use of systemic antiangiogenic therapy is considered for moderate to severe GI bleeding in conjunction with endoscopic therapy, and this is presented in the hematology section of this review.…”

Retinal telangiectasia-like lesions in a 15-year-old female with Hereditary hemorrhagic telangiectasia – a case report

“…Nose bleeding is the most common symptom, but bleeding can also be cutaneous, gastrointestinal, or ocular. Bleeding in HHT is secondary to malformed blood vessels and increased fragility rather than the risk of bleeding due to plasma coagulation factors or platelet dysfunction associated with surgical procedures [2]. HHT is diagnosed clinically and/or by genetic testing.…”