Could a patient with a long history of iron deficiency anemia (IDA) since childhood, despite a well-balanced diet, and chronic constipation, who recently underwent scopes with cauterization of four areas, have an underlying genetic tissue disorder, such as hereditary hemorrhagic telangiectasia (HHT) or a bleeding disorder?

Hereditary Hemorrhagic Telangiectasia Should Be Strongly Considered

Yes, this clinical presentation strongly suggests hereditary hemorrhagic telangiectasia (HHT), and you should actively evaluate for this genetic vascular disorder. The combination of lifelong iron deficiency anemia despite adequate diet, multiple bleeding sites requiring cauterization, and chronic constipation (potentially from chronic iron supplementation) creates a compelling picture for HHT.

Why HHT Is the Leading Diagnostic Consideration

The British Society of Gastroenterology specifically identifies intestinal telangiectasia as a cause of iron deficiency anemia requiring investigation, and family history of telangiectasia should be actively sought during evaluation 1. The American College of Gastroenterology emphasizes that signs of hereditary hemorrhagic telangiectasia, including visible telangiectasias, may explain chronic blood loss in patients with iron deficiency 2.

Key Clinical Features Supporting HHT Diagnosis

• Childhood-onset iron deficiency anemia despite adequate nutrition is characteristic of HHT, as these patients have hemorrhage-adjusted iron requirements that far exceed dietary intake 3
• Multiple gastrointestinal bleeding sites requiring cauterization is a hallmark presentation, with telangiectasias commonly found throughout the GI tract 4, 5
• The pattern of recurrent bleeding requiring repeated interventions is typical, as cauterization provides only temporary control and does not prevent recurrent bleeding 4

Immediate Diagnostic Steps

Apply the Curaçao Criteria for HHT

You need to systematically evaluate for four clinical features 4:

• Recurrent spontaneous epistaxis - Ask specifically about nosebleeds throughout life, even if not currently problematic
• Mucocutaneous telangiectasias - Examine the tongue, lips, oral mucosa, fingertips, and face for tiny erythematous lesions 4
• Visceral organ involvement - The four cauterized GI sites already document this criterion 4
• First-degree family history - Ask about bleeding problems, anemia, or nosebleeds in parents or siblings 1, 4

Three or more criteria establish a definitive diagnosis of HHT; two criteria make it suspected 4.

Essential Physical Examination Findings

• Look for telangiectasias on the tongue, lips, and fingertips - these are pathognomonic when present 2, 4
• Check for pale conjunctivae indicating ongoing anemia 4
• Listen for cardiac flow murmurs suggesting high-output state from chronic anemia 4

Laboratory and Imaging Workup

• Confirm iron deficiency with serum ferritin <12 μg/L and transferrin saturation <16% 6
• Abdominal Doppler ultrasound to screen for hepatic arteriovenous malformations, which occur in 30-80% of HHT patients 4
• Consider genetic testing for ENG, ACVRL1, or SMAD4 mutations if diagnosis remains uncertain after clinical evaluation 5

Critical Management Implications if HHT Is Confirmed

The Paradigm Has Shifted Away from Repeated Cauterization

Modern evidence-based management prioritizes systemic medical therapy over repetitive procedural interventions 5:

• Antifibrinolytic therapy (tranexamic acid) for mild-to-moderate bleeding - Multiple randomized controlled trials demonstrate efficacy 5
• Systemic antiangiogenic drugs (bevacizumab or pomalidomide) for moderate-to-severe bleeding requiring transfusions or causing significant quality of life impairment 5
• Cauterization alone is temporizing and does not prevent recurrent bleeding 4

Iron Replacement Strategy Must Account for Ongoing Losses

• Calculate the hemorrhage-adjusted iron requirement (HAIR), which sums the recommended dietary allowance plus iron needed to replace ongoing hemorrhagic losses 3
• Most HHT patients meet their standard dietary iron requirements but fall far short of their HAIR, explaining persistent anemia 3
• Intravenous iron may be necessary when oral supplementation causes intolerable gastrointestinal side effects (diarrhea, constipation), which occurs frequently and correlates with persistent anemia 3

Common Pitfalls to Avoid

• Do not assume the cauterized lesions have "solved" the bleeding problem - HHT causes progressive development of new telangiectasias throughout life 4, 5
• Do not attribute chronic constipation solely to iron supplements without considering it may have preceded treatment, though iron supplementation commonly worsens this symptom 3
• Do not accept a negative family history as excluding HHT - approximately 20% of cases represent de novo mutations 5
• Do not delay systemic therapy while pursuing repeated endoscopic interventions - this outdated approach leads to unnecessary procedures and persistent anemia 5

If HHT Is Confirmed: Multisystem Screening Is Essential

• Pulmonary arteriovenous malformations occur in 30-50% of HHT patients and require screening with contrast echocardiography or chest CT 5
• Cerebral vascular malformations occur in 10-20% and warrant MRI brain screening 5
• Refer to an HHT Center of Excellence for comprehensive management and family screening 5