Hereditary Hemorrhagic Telangiectasia

Children Need Screening Too

Lynne A. Sekarski MSN, RN, CPN; Lori A. Spangenberg, BSN, RN

Disclosures

Pediatr Nurs. 2011;37(4):163-168. 

In This Article

Abstract and Introduction

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant blood vessel disorder characterized by the presence of arteriovenous malformations (AVMs), epistaxis, and mucocutaneous telangiectases. AVMs are present in lungs, brain, liver, and spine. Children and adults share the same manifestations, with epistaxis and skin telangiectases being the most common. Parents often seek medical attention for their children after an adult in the family is diagnosed. There is debate whether manifestations of HHT are present at birth or develop after puberty, thus making recommendations for evaluation or screening of children in families with HHT uncertain. In the authors' pediatric HHT center, potentially life-threatening manifestations of HHT have been identified in asymptomatic children under 12 years of age. Treatments for HHT include embolization and surgery, laser, and hormone therapy. It is imperative for nurses and other health professionals to recognize this disease and become familiar with evaluation and treatment options.

Introduction

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that affects blood vessels (HHT Foundation International, 2010b). Many organs and multiple body systems are affected by this blood vessel dysplasia (Mei-Zahav et al., 2006). HHT is characterized by the presence of epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVMs) in solid organs. In the United States, about 1 in 5000 individuals are thought to have HHT (HHT Foundation International, 2010b).

The age of clinical presentation of HHT is highly variable among individuals and within families with HHT. Some individuals present with epistaxis prior to their teen years, and others are diagnosed after a life-threatening event, such as a stroke, seizure, severe anemia, or hypoxemic incident. Because young children rarely present with epistaxis or skin findings, nurses and other health care clinicians must be aware of HHT and consider it when a family history is suspicious for symptoms. Some symptoms of HHT are characteristic of other medical diagnoses, including heart and pulmonary disease or a bleeding disorder, making the diagnosis and recognition of the disease difficult. The HHT Foundation Inter national (2010b) notes most patients with HHT are still undiagnosed because of the overlap of symptoms with other conditions. The purpose of this article is to present signs and symptoms of HHT so the practicing clinician can identify the potential diagnosis and have information for treatment and referral.

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