Hereditary hemorrhagic telangiectasia
ICD-10 I78.0 · ICD-11 LA90.00

Treatment of Hereditary Hemorrhagic Telangiectasia with Iron Deficiency Anemia

Clinical Scenario

This protocol addresses patients with hereditary hemorrhagic telangiectasia (HHT) who have developed iron deficiency anemia — a common and clinically significant complication of the disease.

Iron deficiency anemia in HHT produces typical symptoms including fatigue, reduced exercise tolerance, pica, restless leg syndrome, and hair loss, and may considerably worsen symptoms of high-output cardiac failure in patients with significant liver AVMs.

Therapeutic Approach

The expert panel recommends iron replacement for treatment of iron deficiency and anemia in this setting. Management begins with oral iron supplementation as the initial therapeutic consideration, with the approach adjusted according to tolerability and adequacy of response — further options are outlined within the full protocol.

Treatment Goals

Response is assessed at one month. The targets are a hemoglobin rise of ≥1.0 g/dL and normalization of both ferritin and transferrin saturation.

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References

DOI: 10.1182/blood.2020008739

The expert panel recommends iron replacement for treatment of iron deficiency and anemia as follows:

Iron deficiency anemia in HHT results in typical signs and symptoms, including fatigue, reduced exercise tolerance, pica, restless leg syndrome, hair loss, and others, and may considerably worsen symptoms of high-output cardiac failure in patients with significant liver AVMs.

Oral iron is recommended as the initial therapeutic consideration, but the guidelines emphasize that intravenous iron be considered first line in patients presenting with severe anemia or those in whom oral replacement is expected to be inadequate or ineffective.

Assess adequacy of response (hemoglobin rise of ≥1.0 g/dL, normalization of ferritin and transferrin saturation) at 1 month.

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