Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia - also called Osler-Weber-Rendu disease - is an inherited vascular disorder in which venules and capillaries dilate to form fragile masses of thin convoluted vessels (telangiectases), resulting in an abnormal tendency to hemorrhage. This disorder affects both sexes but may cause less severe bleeding in females. A similar inherited disorder, ataxia-telangiectasia, produces some of the same signs and symptoms.

Causes

Hereditary hemorrhagic telangiectasia is transmitted by autosomal dominant inheritance. The disorder seldom skips generations. In its homozygous state, it may be fatal.

Symptoms

Recurrent nosebleeds are a nearly universal symptom in this condition. Usually the nosebleeds begin in childhood and become worse with age. The skin changes begin at puberty , and the condition becomes progressively worse until about 40 years of age, when it stabilizes.

Diagnostic tests

Bone marrow aspiration showing depleted iron stores confirms secondary iron deficiency anemia. Hypochromic, microcytic anemia is common; abnormal platelet function may also be found. Coagulation tests are essentially irrelevant because hemorrhage in telangiectasia results from vascular wall weakness.

Treatment

Supportive therapy includes blood transfusions and the administration of supplemental iron. Ancillary treatment may consist of applying pressure and topical hemostatic agents to bleeding sites, cauterizing bleeding sites not readily accessible, and protecting the patient from trauma and unnecessary bleeding.

Parenteral administration of supplemental iron enhances absorption to maintain adequate iron stores and prevents gastric irritation. Administering antipyretics or antihistamines before blood transfusion and using saline-washed cells, frozen blood, or other types of leukocyte-poor blood instead of whole blood transfusion may prevent febrile transfusion reactions.

Prevention

Hereditary hemorrhagic telangiectasia is an inherited disorder and cannot be prevented.

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