Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

TEMPI syndrome


Other Names for this Disease
  • Telangiectasia - Erythrocytosis - Monoclonal gammopathy - Perinephric-fluid collections - Intrapulmonary shunting
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


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).[1] 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.[2][3]
Last updated: 11/6/2012

References

  1. Sykes DB, Schroyens W, O'Connell C. The TEMPI syndrome--a novel multisystem disease. New England Journal of Medicine. August 3, 2011; 365(5):475-477. http://www.nejm.org/doi/full/10.1056/NEJMc1106670. Accessed 10/23/2012.
  2. Kwok M, Korde N, Landgren O. Bortezomib to Treat the TEMPI Syndrome. New England Journal of Medicine. May 10, 2012; 366(19):1843-1845. http://www.nejm.org/doi/full/10.1056/NEJMc1202649. Accessed 10/23/2012.
  3. Schroyens W, O'Connell C, Sykes DB. Complete and Partial Responses of the TEMPI Syndrome to Bortezomib. New England Journal of Medicine. August 23, 2012; 367(8):778-780. http://www.nejm.org/doi/full/10.1056/NEJMc1205806. Accessed 10/23/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about TEMPI syndrome. We will answer your question and update these pages with new resources and information.
On this page

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss TEMPI syndrome. Click on the link to view a sample search on this topic.