Telangiectasia – Erythrocytosis – Monoclonal Gammopathy – Perinephric-Fluid Collections

TEMPI syndrome, Telangiectasia - Erythrocytosis - Monoclonal Gammopathy - Perinephric-Fluid Collections - Intrapulmonary Shunting

Overview

Type of disease: Rare conditions

TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary 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 eventually leads to hypoxia (inadequate oxygen supply). 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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