Rendu-Osler-Weber Syndrome

September 14, 2005
N.k. Akritidis, MD
N.k. Akritidis, MD

,
G. Mantzios, MD
G. Mantzios, MD

,
T Papsanthis, MD
T Papsanthis, MD

,
I Giannakakis, MD
I Giannakakis, MD

A 62-year-old man was admitted to the hospital with iron deficiency anemia, as demonstrated by low serum iron and ferritin levels and high total iron–binding capacity. He had had this condition for at least the last 5 years and had been treated with ferrous sulfate sporadically. The history coupled with the laboratory findings and the telangiectatic lesions on his lower lip led to a diagnosis of hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease.

A 62-year-old man was admitted to the hospital with iron deficiency anemia, as demonstrated by low serum iron and ferritin levels and high total iron–binding capacity. He had had this condition for at least the last 5 years and had been treated with ferrous sulfate sporadically. The history coupled with the laboratory findings and the telangiectatic lesions on his lower lip led to a diagnosis of hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease.

This disease is transmitted as an autosomal dominant trait, write Drs N. K. Akritidis, G. Mantzios, T. Papaxanthis, and I. Giannakakis of Ioannina, Greece. Patients typically present with cutaneous and mucosal bleeding. Small, red-purple telangiectatic lesions may be seen on the lips, face, oral and nasal mucosa, and toes and fingertips. The examination of this patient's upper and lower gastrointestinal (GI) tract revealed no abnormalities, although GI lesions and bleeding can occur in hereditary hemorrhagic telangiectasia.

This patient received 2 units of packed red blood cells because of the severity of his anemia. At the same time, treatment with oral ferrous sulfate was begun. No other treatment was given for the topical lip lesions.