Clinical Manifestations

HHT is characterized by skin, mucosal membrane, and visceral telangiectasias, recurrent epistaxis, and visceral hemorrhages. The recurrent epistaxis is usually the first and most common sign of the disease. The lesions seen on physical exam are small, dark red telangiectases, with ill-defined borders and stellate appearance, occurring most commonly on the face, lips, tongue, palms, and fingers (Fig. 6). The telangiectasias seen on the skin and mucous membranes actually represent small AVMs, which explains their propensity to bleed. Visceral AVMs are found mostly in the lungs, central nervous system (CNS), upper gastrointestinal tract, and liver. The number and location of telangiectasias and AVMs vary widely between individuals and within the same family. The external, visible signs (telangiectasias and frequent nose bleeds) often do not manifest until the second or third decade of life. Internal AVMs in the brain, spinal cord, and lungs are thought to be largely congenital lesions and may present suddenly and with serious complication soon after birth or at an early age. If recognized, the underlying AVM is usually treatable.

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