TEMPI 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
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. The abnormal plasma-cell clone and/or the 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.