Management of Hemoptysis with Multiple Mucocutaneous Telangiectasias
This presentation is pathognomonic for Hereditary Hemorrhagic Telangiectasia (HHT), and you must immediately screen for life-threatening pulmonary and cerebral arteriovenous malformations (AVMs) while managing the acute bleeding. 1, 2
Immediate Diagnostic Confirmation
Assess for HHT using the Curaçao criteria—this patient likely already meets diagnostic criteria:
- Recurrent epistaxis (nosebleeds) 1, 2
- Multiple mucocutaneous telangiectasias on lips, oral mucosa, fingers, and nose 1, 3
- Visceral AVMs in lungs, liver, brain, or spine 3, 2
- Family history of HHT (autosomal dominant inheritance) 3, 4
Three or more criteria establish a definite diagnosis of HHT. 1 The presence of hemoptysis with multiple telangiectasias strongly suggests pulmonary AVMs as the bleeding source. 2
Acute Hemoptysis Management
Severity Stratification
Determine if this is massive hemoptysis (≥200 mL/24 hours or bleeding causing respiratory compromise): 5, 6
- For massive hemoptysis with hemodynamic instability: Intubate immediately with a single-lumen cuffed endotracheal tube (NOT double-lumen) to allow bronchoscopic suctioning of obstructing clots, which cause death by asphyxiation. 5
- Avoid BiPAP entirely—positive pressure ventilation worsens bleeding. 5, 6
- Proceed directly to bronchial artery embolization (BAE) without delay if clinically unstable, as delaying BAE significantly increases mortality. 5, 6
For Non-Massive Hemoptysis (Most Likely Scenario)
Obtain CT chest with IV contrast immediately—this is superior to bronchoscopy for identifying pulmonary AVMs and has 80-90% diagnostic accuracy. 1, 5, 6
- CT angiography is the standard of care for arterial planning if BAE is being considered. 5, 6
- Bronchoscopy should be performed in stable patients to identify the anatomic site and side of bleeding (70-80% diagnostic yield). 5, 6
Medical Management
Stop all medications that worsen bleeding immediately: 5, 7
- Discontinue NSAIDs—they impair platelet function. 5, 7
- Hold all anticoagulants during active bleeding. 5, 7
- Stop airway clearance therapies to allow clot formation. 5, 6
Administer antibiotics—bleeding may represent pulmonary infection or exacerbation. 5, 6
Critical HHT-Specific Screening (Life-Saving)
All patients with confirmed or suspected HHT require immediate screening for visceral AVMs, as these cause the highest morbidity and mortality: 2
Pulmonary AVMs (Present in 40-60% of HHT Patients)
- Obtain contrast echocardiography or CT chest with IV contrast to screen for pulmonary AVMs. 2
- Pulmonary AVMs cause right-to-left shunting, leading to paradoxical embolization with risk of ischemic stroke (30% lifetime risk) and cerebral abscess. 2
- Treat all pulmonary AVMs ≥3 mm with transcatheter embolization—this prevents stroke and abscess. 2
Cerebral AVMs (Present in 10-20% of HHT Patients)
- Obtain brain MRI with and without contrast to screen for cerebral AVMs. 2
- Cerebral AVMs can cause hemorrhagic stroke, seizures, or neurological deficits. 3, 2
- Screen children before age 10-12 years, as childhood complications from large cerebral AVMs can occur. 2
Hepatic AVMs (Present in 40-80% of HHT Patients)
- Obtain Doppler ultrasound or CT abdomen with IV contrast if symptomatic (high-output heart failure, portal hypertension, biliary disease). 2
- Hepatic AVMs cause left-to-right shunting with high cardiac output states. 2
HHT-Specific Epistaxis and Hemoptysis Management
For recurrent epistaxis (present in >90% of HHT patients): 1, 2
- Topical therapies: Nasal humidification, saline gel, and avoidance of nasal trauma are first-line. 1
- Systemic therapies for severe bleeding: 1
- Tranexamic acid (TXA) decreases epistaxis severity (measured by Epistaxis Severity Score) but does not improve hemoglobin. 1
- Thalidomide improves severity and frequency of epistaxis, improves hemoglobin, and decreases transfusion requirements. 1
- Bevacizumab (IV or local infiltration) improves bleeding frequency, duration, and Epistaxis Severity Score, but requires larger randomized trials. 1
For gastrointestinal telangiectasias (cause chronic bleeding and iron deficiency): 2
- Screen with upper endoscopy and colonoscopy if symptomatic or iron deficient. 2
- Endoscopic laser ablation or argon plasma coagulation can treat accessible lesions. 1, 2
Bronchial Artery Embolization for HHT-Related Hemoptysis
BAE achieves immediate hemostasis in 73-99% of cases and is first-line therapy for massive hemoptysis: 1, 5, 6
- Over 90% of massive hemoptysis originates from bronchial arteries, making BAE highly effective. 1, 5
- Recurrence occurs in 10-55% of cases, requiring close follow-up. 5, 6
- Repeat BAE shows no increased morbidity or mortality risk. 5, 6
Genetic Testing and Family Screening
Obtain molecular genetic testing for ENG and ACVRL1 mutations (cause 85% of HHT cases): 3, 4
- ENG mutations cause HHT type 1 (higher risk of pulmonary and cerebral AVMs). 3, 4
- ACVRL1 mutations cause HHT type 2 (higher risk of hepatic AVMs). 3, 4
- SMAD4 mutations cause juvenile polyposis/HHT overlap syndrome. 4
Screen all first-degree relatives—HHT is autosomal dominant with variable penetrance. 3, 2
Critical Pitfalls to Avoid
- Never delay screening for pulmonary and cerebral AVMs—these cause preventable stroke, abscess, and death. 2
- Never use resorbable packing in HHT patients with epistaxis—it increases bleeding risk. 1
- Never perform bronchoscopy before BAE in unstable patients—this delay increases mortality. 5, 6
- Never assume isolated epistaxis is benign—it may herald life-threatening visceral AVMs. 2
Long-Term Management
Admit to intensive care for monitoring of coagulation parameters, hemoglobin, blood gases, and ongoing bleeding. 5, 6
Treat iron deficiency aggressively—chronic bleeding causes severe anemia and impairs quality of life. 2
Refer to an HHT Center of Excellence for multidisciplinary management, as HHT requires lifelong surveillance and treatment of visceral AVMs. 2