TEMPI syndrome is an

orphan disease A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financi ...

where the patients share five characteristics from which the acronym is derived:

telangiectasia Telangiectasias (), also known as spider veins, are small dilated blood vessels that can occur near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. These dilated blood vessels can develop anywhere ...

s, elevated

erythropoietin Erythropoietin (; EPO), also known as erythropoetin, haematopoietin, or haemopoietin, is a glycoprotein cytokine secreted mainly by the kidneys in response to cellular hypoxia; it stimulates red blood cell production ( erythropoiesis) in th ...

and

erythrocytosis Polycythemia (also known as polycythaemia) is a laboratory finding in which the hematocrit (the volume percentage of red blood cells in the blood) and/or hemoglobin concentration are increased in the blood. Polycythemia is sometimes called eryth ...

monoclonal gammopathy Monoclonal gammopathy, also known as paraproteinemia, is the presence of excessive amounts of myeloma protein or monoclonal gamma globulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, ...

, perinephric fluid collection, and intrapulmonary shunting.

Signs and symptoms

The patients were all diagnosed at middle age. A

was implicated in all patients tested.

Cause

The cause of the syndrome is unknown. Abnormal plasma-cell clone and

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 Bortezomib, sold under the brand name Velcade among others, is an anti-cancer medication used to treat multiple myeloma and mantle cell lymphoma. This includes multiple myeloma in those who have and have not previously received treatment. It is ...

daratumumab Daratumumab, sold under the brand name Darzalex among others, is an anti-cancer monoclonal antibody medication. It binds to CD38, which is overexpressed in multiple myeloma cells. Daratumumab was originally developed by Genmab, but it is now ...

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 Massachusetts General Hospital (Mass General or MGH) is a teaching hospital located in the West End neighborhood of Boston, Massachusetts. It is the original and largest clinical education and research facility of Harvard Medical School/Harvar ...

References

External links

Office of Rare Diseases Research
(US)
Orpha.net
(EU)
Hematopia TEMPI Page
{{Medical resources , ICD10 = , ICD9 = , ICDO = , OMIM = , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 284227 Rare syndromes Syndromes of unknown causes Syndromes affecting blood Syndromes affecting the vascular system