Orphan disease
Medical condition
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. 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.