Workup for Telangiectasia
The recommended workup for a patient presenting with telangiectasias should include assessment for nasal and oral mucosal telangiectasias, family history of recurrent nosebleeds, and evaluation for potential underlying systemic disorders, particularly hereditary hemorrhagic telangiectasia (HHT). 1
Initial Assessment
- Location and distribution pattern: Document whether telangiectasias are localized or generalized, as this helps distinguish between primary and secondary causes 2
- Associated symptoms: Assess for:
- Recurrent epistaxis (nosebleeds), especially if bilateral
- Gastrointestinal bleeding
- Neurological symptoms
- Respiratory symptoms
- Family history of similar lesions or bleeding
- Physical examination: Carefully examine:
- Nasal mucosa (anterior rhinoscopy)
- Oral mucosa
- Skin (face, hands, trunk)
- Conjunctiva
Diagnostic Algorithm
Step 1: Screen for HHT
If the patient has recurrent bilateral nosebleeds or family history of recurrent nosebleeds:
- Perform detailed examination for telangiectasias in nasal and oral mucosa 1
- Apply Curaçao criteria for HHT diagnosis 1:
- Recurrent spontaneous epistaxis
- Multiple telangiectasias at characteristic sites (lips, oral cavity, fingers, nose)
- Visceral lesions (gastrointestinal, pulmonary, cerebral, spinal)
- Family history of HHT in first-degree relative
Step 2: Evaluate for Secondary Causes
If HHT is not suspected, assess for:
- Medication history (especially anticoagulants)
- History of radiation therapy 1
- Liver disease
- Connective tissue disorders
- Ataxia telangiectasia (if neurological symptoms present) 1
- Malignancy (especially cutaneous lymphoma) 2
Step 3: Laboratory Testing
- Complete blood count (to assess for anemia)
- Coagulation studies
- Liver function tests
- Consider genetic testing for HHT (ENG, ACVRL1, SMAD4) in patients with suspected HHT 1
Step 4: Additional Imaging Based on Clinical Suspicion
For patients with suspected HHT:
- Contrast echocardiography to screen for pulmonary arteriovenous malformations
- Brain MRI to screen for cerebral vascular malformations
- Abdominal imaging to assess for liver vascular malformations
For patients with suspected ataxia telangiectasia:
- Chest imaging if respiratory symptoms are present 1
Special Considerations
Anticoagulated Patients
- For patients on anticoagulants with telangiectasia-related bleeding, consult with the clinician managing anticoagulation before modifying medication regimen 1, 3
- For non-severe bleeding, do not reverse anticoagulation if bleeding can be otherwise controlled 1
Referral Indications
- Refer to HHT specialist center if HHT is suspected 1
- Refer to hematology if bleeding is severe or recurrent
- Refer to dermatology for extensive cutaneous telangiectasias without clear cause
- Refer to neurology if ataxia or other neurological symptoms are present 1
Pitfalls to Avoid
- Don't assume all telangiectasias are benign: They can be markers of serious underlying conditions including malignancy 4
- Don't miss HHT diagnosis: HHT is underdiagnosed with significant diagnostic delays 1
- Don't immediately reverse anticoagulation: In non-severe bleeding, first-line treatments should be initiated prior to reversal of anticoagulation 1
- Don't forget age-related considerations: The appearance of telangiectasias in HHT has age-related expression 1
By following this structured approach to the workup of telangiectasias, clinicians can efficiently identify underlying causes and initiate appropriate management or referral for these patients.