TEMPI Syndrome is a novel orphan disease where the patients share five characteristics from which the acronym is derived: telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunting.
|E||Elevated Erythropoietin and Erythrocytosis|
|P||Perinephric fluid collections|
In 2010, the case of a man with unexplained erythrocytosis and perinephric fluid collection as main features was described in the Case Records of the Massachusetts General Hospital. As a consequence two strikingly similar cases were identified and a review of the literature revealed three more patients with similar characteristics.
As of December 2014, a total of 9 patients worldwide with the TEMPI syndrome have been identified (D.B.Sykes, Personal Communication).
In terms of their therapy:
- Untreated: 2 patients
- Velcade alone: 5 patients
- Immediate autologous transplant: 1 patient
- Velcade followed by Velcade/Lenalidomide followed by autologous transplant: 1 patient
Description of symptoms
The four men and two women were all diagnosed at middle age. The symptoms were slowly and steadily progressive. Telangiectasias developed over the face, trunk and arms. Increased serum erythropoietin levels, eventually exceeding 5000 mU /ml, preceded the intrapulmonary shunting and the development of hypoxemia. Sampling of the perinephric fluid revealed a clear, serous fluid with low levels of protein, few leukocytes and no cholesterol or triglycerides. An IgG monoclonal gammopathy was implicated in the four patients tested (with an associated kappa light chain in all three patients tested). Spontaneous venous thromboses occurred in three patients, two of whom also had spontaneous intracranial bleeding in the absence of blood vessels malformations.
Since then more patients with the syndrome have been reported. The cause of the syndrome is unknown.
- Bazari, Hasan; Attar, Eyal C.; Dahl, Douglas M.; Uppot, Raul N.; Colvin, Robert B. (2010). "Case Records of the Massachusetts General Hospital. Case 23-2010: A 49-Year-Old Man with Erythrocytosis, Perinephric Fluid Collections, and Renal Failure". N Engl J Med (363): 463–475. doi:10.1056/NEJMcpc1004086.
- Sykes, David B.; Schroyens, Wilfried; O'Connell, Casey (2011). "TEMPI Syndrome – A Novel Multisystem Disease". N Engl J Med. 365 (5): 475–477. doi:10.1056/NEJMc1106670. PMID 21812700.
- Schroyens, Wilfried; O'Connell, Casey; Sykes, David B. (2012). "Complete and Partial Responses of the TEMPI Syndrome to Bortezomib". N Engl J Med (367): 778–780. doi:10.1056/NEJMc1205806.
- Mohammadi, Farnaz; Wolverson, Michael K.; Bastani, Bahar (2012). "A new case of TEMPI syndrome". Clin Kidney J. 5 (6): 556–558. doi:10.1093/ckj/sfs139.