engleski

Case report of hereditary hemorrhagic teleangiectasia with severe anemia

Hereditary hemorrhagic telangiectasia, also called Osler-Rendu-Weber disease, is a systemic autosomally dominant inherited disease which affects most small blood vessels of the skin and mucosa. Abnormal communication between arteries and veins is also present in visceral organs. This rare condition is often not duly recognized and, because of its nonspecific symptoms which vary among affected population, it is usually misdiagnosed. This article presents a case of a 52-year-old female patient with an illness that had been misdiagnosed as sideropenic anemia for years ; hereditary hemorrhagic telangiectasia was diagnosed only seven years ago. The patient’s everyday nosebleeds led to severe iron deficiency anemia (hemoglobin values 30 g/L and serum iron concentration 1 µmol/L) which is rarely associated with HHT. The patient has been given blood transfusions on monthly bases for the last two years in order to restore blood loss and treat anemia. As hereditary hemorrhagic telangiectasia is a progressive lifelong disease, we presented history of the development of symptoms and complications, results of relevant laboratory tests and imaging methods, as well as the therapeutic procedures which made the patient dependent on medical outpatient treatment for life.

arteriovenous malformation ; case report ; iron-deficiency anemia ; hereditary hemorrhagic telangiectasia

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