Hereditary Hemorrhagic Telangiectasia

Lesions on the tongue and lips prompted a 61-year-old woman to seek medical attention. She also complained of craving ice and cold liquids. Her history included depression, which was treated with ser-traline, and lifelong recurrent epistaxis. She denied pulmonary or neurologic symptoms.

The patient's father had died of nonalcoholic cirrhosis. One of her sons has recurrent epistaxis. Recently, hereditary hemorrhagic telangiectasia was diagnosed in her brother after an evaluation for severe anemia and epistaxis.

Rebecca Galante, MD, of Hammond, Ind, noted multiple, small, raised arteriovenous malformations on the external and buccal mucosa of the patient's lips and tongue and on nasal mucosa. Results of a stool culture were negative for heme. Laboratory results showed mild anemia.

Hereditary hemorrhagic telangiectasia--an autosomal dominant vascular dysplasia, also known as Rendu-Osler-Weber syndrome--leads to telangiectases and arteriovenous malformations of the skin, mucosa, and viscera (typically, the lung, liver, and brain). It is highly penetrant. Epistaxis is the presenting feature in 90% of patients¹; significant GI hemorrhage develops in 16% of patients.² Major causes of morbidity include pulmonary arteriovenous malformations, which may lead to polycythemia and clubbing, and cirrhosis of the liver. Neurologic morbidity is primarily related to emboli, although vascular malformations may occur.

Diagnosis requires at least 3 of the following criteria:

• Epistaxis.

• Telangiectases at characteristic sites (face, lips, oral cavity, fingers).

• Visceral arteriovenous malformations or GI tract telangiectases.

• Family history.

Management consists of treatment of identified complications, such as epistaxis, GI hemorrhage, and arteriovenous malformations, and surveillance with brain MRI, chest CT, and chest radiography.

This patient refused further workup for lung and brain malformations; however, she was evaluated by an otorhinolaryngologist who successfully cauterized a few nasal lesions.

References:

REFERENCES:

1.

AAssar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia.

Laryngoscope.

1991;101:977-980.

2.

Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis.

J Med Genet.

1992;29:527-530.