Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs) are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs. Liver AVMs are present in many patients with HHT, though these individuals are usually asymptomatic; however, liver AVMs may lead to serious complications, such as high output cardiac failure. Diagnosis of HHT hinges upon fulfilling three out of four criteria: family history of the condition, mucocutaneous telangiectases, spontaneous and recurrent episodes of epistaxis, and visceral AVMs. Management is guided by international consensus guidelines and targets patients' specific AVMs. Prognosis is good, though severe complications including hemorrhage and paradoxical emboli are possible. Novel therapeutics are being explored in clinical trials; bevacizumab and pazopanib inhibit angiogenesis, while thalidomide bolsters blood vessel maturation. Pregnancy in patients with HHT is considered high risk. While the majority of pregnancies proceed normally, severe complications have been reported in some women with HHT; these include heart failure, intracranial hemorrhage, pulmonary hemorrhage, and stroke. Such complications occur most often in the second and third trimesters when maternal changes such as peripheral vasodilation and increased cardiac output are at their maximum. Awareness of the diagnosis of HHT has been associated with improved outcomes in pregnancy. Management guidelines for pregnant patients with HHT are reviewed.

Keywords: arteriovenous; hemorrhagic; hereditary; malformations; pregnancy; telangiectasia.

Figure 1

Distant (A) and closer (B) views of prominent telangiectases are observed on the fingertips of a 74-year-old woman with hereditary hemorrhagic telangiectasia. She presented with a history of multiple episodes of epistaxis and required 70 cauterizations to control her nosebleeds. She is currently managed with timolol nasal spray but notes that chocolate, eggs, and spice may cause flares of the fingertip lesions.

Figure 2

Telangiectases on the tongue of an 85-year-old man with hereditary hemorrhagic telangiectasia who suffered from occasional episodes of epistaxis.

Figure 3

Vascular lesions on the lips of an 85-year-old man with hereditary hemorrhagic telangiectasia.