A 40-year-old man presented to the office with anemia. He explained that he had had varying degrees of anemia over the past 15 years and that several members of his family also had anemia. The physician suspected that the patient had iron deficiency anemia simply because of his physical appearance (see the accompanying photographs), even before reviewing the results of initial laboratory tests.
The answer is B: hereditary hemorrhagic telangiectasia. Previously referred to as Osler-Weber-Rendu disease, this autosomal dominant vascular anomaly is characterized by red-to-violet capillary angiodysplasia, which are often initially located on the lips, tongue and nasal mucosa (see the photograph to the right). The telangiectatic lesions appear in early adulthood and may progress. Additional vascular abnormalities may appear on the hands and feet, and in the gastrointestinal tract. The lesions can produce arterio-venous shuntings, causing high cardiac output states. At times, pulmonary arteriovenous malformations may cause bruits or produce abnormalities on chest radiographs.
Hereditary hemorrhagic telangiectasia is a familial vascular disorder that can be diagnosed on the basis of the history and physical findings. Chronic, low-grade intestinal bleeding is frequent, and iron deficiency is common. Treatment includes continuous iron therapy for the anemia and local measures such as pressure or styptic agents, when possible, for bleeding. At times, bleeding may be a difficult challenge for the physician, and laser cautery or antifibrinolytic agents may be used. Blood transfusions may be necessary in patients with acute hemorrhage or symptomatic anemia. Unfortunately, frequent transfusions are associated with risks (i.e., hepatitis and human immunodeficiency virus infection) and can lead to blood crossmatching difficulties from multiple antibodies.
Patients with telangiectasia from alcoholic liver disease may also present with lesions of the face, tongue and lips; however, these patients have a history and physical findings of chronic liver disease. Familial anemia, as described in the patient discussed here, would be unlikely in persons with liver disease. Wilson's disease is an infrequent example of inherited liver disease, but if the patient's family members had Wilson's disease, they would also have neurologic abnormalities and physical findings such as Kayser-Fleischer rings. Thalassemia could be a cause of inherited anemia in the patient described here, especially if microcytic indexes were present; however, thalassemia is not associated with telangiectasia. Ehlers-Danlos syndrome is an inherited disorder of the skin and subcutaneous tissue. The hyperelastic nature of the tissue of patients with this syndrome provides poor support for blood vessels and may result in purpura and a prolonged bleeding time; however, telangiectasia do not occur in these patients. Lastly, Kaposi's sarcoma is a malignancy that presents as multifocal cutaneous lesions and is associated with immunocompromised persons (transplant recipients or persons with lymphoid diseases or HIV infection) or people of Jewish, Italian or African descent. Although these lesions may bleed and cause anemia, they are characteristically more indurated and darker than telangiectatic lesions.