A 22-Year-Old Female with Frequent Nosebleeds and Abnormalities on Her Lips and Tongue

Differential Diagnosis

• Lobular capillary hemangioma
• Rosacea
• Hereditary hemorrhagic telangiectasia
• CREST syndrome

Diagnosis

This patient was diagnosed with hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease.

Learnings/What to Look for

• HHT is an autosomal dominant hereditary condition (though occasional cases are sporadic) causing mucocutaneous and visceral telangiectasias and arteriovenous malformations
• Telangiectasias of HHT are similar to those seen in CREST syndrome; however, recurring nosebleeds and mucosal hemorrhage are not features of CREST

Pearls for Urgent Care Management and Considerations for Transfer

• Medications containing estrogen can be helpful in treating HHT
• Bevacizumab, pazopanib, and pomalidomide, all of which block blood vessel growth, are promising treatments for HHT
• Drugs that slow the disintegration of clots, such as tranexamic acid, can help stop extreme bleeding in emergencies and may be useful if taken regularly to prevent bleeding

Acknowledgment: Images and case courtesy of VisualDx (www.VisualDx.com/JUCM).