Diagnosis and Treatment of Hereditary Hemorrhagic Telangiectasia.

BACKGROUND

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder known for its debilitating symptoms. More than 90% of patients with HHT experience epistaxis, and they average up to 18 bleeds per month. We review the current literature on the pathophysiology, clinical presentation, and management of HHT.

METHODS

We searched MEDLINE, EMBASE, and PubMed and identified 19 articles published since 2000 with current information on HHT.

RESULTS

HHT is a disease more commonly associated with significant morbidity rather than mortality. The morbidity of the disease and decreased quality of life are the result of the recurrent and potentially severe epistaxis that the majority of patients with HHT experience. During active epistaxis, the effective emergency techniques of locally applied pressure, nasal packing anteriorly and/or posteriorly, and cauterization are effective. Medical treatment with antiestrogen therapy has shown promising results, but further research is needed to determine the long-term side effects and the limitations of lifelong therapy. Research directed toward bleeding reduction and prevention has yet to have a breakthrough. Although initial reports suggest that intranasal bevacizumab is an effective agent, further research is required.

CONCLUSION

Interventional treatments in life-threatening and/or severe circumstances will continue to be used because of their effectiveness. Research into the pathophysiology of HHT has led to the development of potential therapies that prevent and decrease the severity of epistaxis, but the current evidence is insufficient to ascertain best practice. At present, appropriate management of acute epistaxis coupled with early diagnosis and referral to an ear, nose, and throat specialist should be the mainstay of treatment.