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TEMPI syndrome

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Orphan disease Medical condition
TEMPI syndrome
Other namesTelangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

TEMPI syndrome is an 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.

Signs and symptoms

TEMPI Symptom
T Telangiectasias
E Elevated erythropoietin and erythrocytosis
M Monoclonal gammopathy
P Perinephric fluid collections
I Intrapulmonary shunting

The patients were all diagnosed at middle age. A monoclonal gammopathy was implicated in all patients tested.

Cause

The cause of the syndrome is unknown. Abnormal plasma-cell clone and monoclonal gammopathy are suggested to be triggers of the disease.

Diagnosis

The diagnosis is based on the five characteristics described above.

Treatment

Complete and partial disappearance of the symptoms of the TEMPI syndrome was reported with the drugs bortezomib, daratumumab and autologous stem cell transplantation.

History

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.

References

  1. 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. S2CID 35990145.
  2. ^ Sykes, David B.; O'Connell, Casey; Schroyens, Wilfried (2020-04-09). "The TEMPI syndrome". Blood. 135 (15): 1199–1203. doi:10.1182/blood.2019004216. ISSN 1528-0020. PMID 32108223.
  3. Schroyens, Wilfried; O'Connell, Casey; Sykes, David B. (2012). "Complete and Partial Responses of the TEMPI Syndrome to Bortezomib" (PDF). N Engl J Med. 367 (8): 778–780. doi:10.1056/NEJMc1205806. PMID 22913703.
  4. Sykes, David B.; Schroyens, W. (2018). "Complete Responses in the TEMPI Syndrome after Treatment with Daratumumab". N Engl J Med. 378 (23): 2240–2242. doi:10.1056/NEJMc1804415. PMID 29874534. S2CID 205064988.
  5. Kenderian, S.S..; Rosado, F.G; Sykes, D.B.; Hoyer, J.D.; Lacy, M.Q. (2015). "Long-term complete clinical and hematological responses of the TEMPI syndrome after autologous stem cell transplantation". Leukemia. 29 (12): 2414–2416. doi:10.1038/leu.2015.298. PMID 26500143.
  6. 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 (5): 463–475. doi:10.1056/NEJMcpc1004086. PMID 20818867.

External links

ClassificationD
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