What management approach is recommended for a patient with multiple Arteriovenous Malformations (AVMs), angioectasias, and transverse ectasia, who has a history of iron deficiency anemia as a child despite a well-balanced diet?

Hereditary Hemorrhagic Telangiectasia (HHT) Evaluation and Management

This patient's presentation of multiple AVMs, angioectasias, and childhood iron deficiency anemia despite adequate diet is pathognomonic for Hereditary Hemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu syndrome), and requires immediate comprehensive screening for visceral AVMs and lifelong iron supplementation with surveillance. 1

Diagnostic Confirmation

The clinical picture strongly suggests HHT based on the Curaçao criteria:

• Multiple AVMs of the nervous system should prompt consideration of hereditary hemorrhagic telangiectasia 1
• The combination of multiple telangiectasias (angioectasias) and visceral AVMs with childhood iron deficiency anemia (from chronic gastrointestinal bleeding) fulfills diagnostic criteria 1
• Genetic testing for HHT mutations (ENG, ACVRL1, SMAD4) should be performed to confirm diagnosis and enable family screening 2

Immediate Screening Requirements

Cerebral AVM Assessment

• Obtain brain MRI with T2-gradient-echo sequences immediately to fully characterize all cerebral AVMs 2
• Cerebral angiography is recommended for complete angioarchitectural evaluation of each AVM 2
• Risk stratification using Spetzler-Martin grading determines treatment approach 3, 2

Visceral AVM Screening

• Screen for pulmonary AVMs with contrast echocardiography or chest CT, as these carry risk of paradoxical embolism and stroke 1
• Evaluate for hepatic AVMs with abdominal imaging 1
• Upper endoscopy to identify gastrointestinal telangiectasias causing chronic blood loss 4

Iron Deficiency Management

Immediate Treatment

• Initiate oral iron supplementation at 3 mg/kg per day of elemental iron administered between meals 1, 5
• Confirm iron deficiency with serum ferritin ≤15 μg/L before starting treatment 5
• Monitor hemoglobin/hematocrit at 4 weeks; expect increase of ≥1 g/dL hemoglobin or ≥3% hematocrit 1, 5

Long-term Iron Management

• Continue iron supplementation for at least 2-3 months after hemoglobin normalization to replenish stores 5
• Lifelong iron supplementation is typically required due to ongoing gastrointestinal blood loss from telangiectasias 4
• Reassess hemoglobin approximately 6 months after initial treatment completion 1, 5
• Encourage iron-rich foods and vitamin C sources with meals to improve absorption 5

Cerebral AVM Treatment Strategy

Grade I-II AVMs (Low-Risk)

• Surgical excision is the primary treatment with 92-100% favorable outcomes 2
• Complete obliteration is essential as subtotal treatment does not protect against hemorrhage 2
• Intraoperative angiography confirms complete resection 2

Grade III AVMs (Moderate-Risk)

• Multimodal approach with embolization followed by surgery achieves good/excellent outcomes in 68.2-88.6% of cases 2
• Case-by-case evaluation required 1, 2

Grade IV-V AVMs (High-Risk)

• Multidisciplinary approach with consideration of observation versus staged treatment 1, 2
• Surgery alone is not recommended due to high morbidity risk 2
• The annual hemorrhage risk is 2-4% in children, with 25% mortality when hemorrhage occurs 1, 2

Critical Management Considerations

Hemorrhage Risk Factors

• Prior hemorrhage increases annual risk to 6-18% in the first year 3
• Small nidus size, deep venous drainage, single draining vein, and intranidal aneurysms are high-risk features 3, 2
• The cumulative lifetime hemorrhage risk is substantial given young age, making definitive treatment highly desirable when feasible 1, 2

Surveillance Protocol

• Baseline brain MRI before any intervention, with follow-up MRI every 6-12 months to assess stability 3, 2
• New severe headache requires immediate imaging 3, 2
• Any new neurological symptom necessitates repeat imaging 3, 2

Family Screening

• Screen first-degree relatives for HHT manifestations including telangiectasias, epistaxis, and visceral AVMs 2
• Genetic counseling and testing for identified mutations 2
• Multiple cavernous malformations occur in 50% of familial cases when genetic mutations are present 2

Common Pitfalls to Avoid

• Do not delay iron supplementation while awaiting ferritin results if clinical suspicion is high 5
• Never assume dietary modification alone will correct iron deficiency in HHT patients with ongoing GI blood loss 4
• Avoid treating cerebral AVMs during acute hemorrhage unless specific criteria are met (decreased consciousness, posterior fossa/temporal hematoma >30 mL, or hemispheric hematoma >60 mL) 6
• Do not use radiosurgery for acutely ruptured AVMs as therapeutic effects are delayed 2-3 years, during which hemorrhage risk remains 3-4% annually 2, 6