is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias
with elevated erythropoietin level
, Monoclonal gammopathy
erinephric-fluid collections (fluid around the kidney), and I
ntrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation).
Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib
Last updated: 11/6/2012