Overview
TEMPI syndrome is an extremely rare blood and vascular disorder. The name TEMPI is an acronym that stands for its five main features: Telangiectasias (small widened blood vessels visible on the skin), Erythrocytosis (too many red blood cells), Monoclonal gammopathy (an abnormal protein made by plasma cells in the bone marrow), Perinephric fluid collections (fluid buildup around the kidneys), and Intrapulmonary shunting (abnormal blood flow in the lungs that reduces oxygen levels). The condition was first described in 2011 and is classified under plasma cell disorders. Patients with TEMPI syndrome often develop visible red spots on their skin from tiny dilated blood vessels, experience shortness of breath and low oxygen levels due to abnormal connections in the lung blood vessels, and have elevated red blood cell counts. The fluid around the kidneys can sometimes cause flank pain or be found incidentally on imaging. The monoclonal gammopathy means that a small group of abnormal plasma cells in the bone marrow produces an unusual protein that can be detected in the blood. Because TEMPI syndrome is so rare, treatment approaches are still evolving. The most promising treatment targets the underlying plasma cell disorder. Several patients have responded well to therapies used for multiple myeloma and related conditions, such as bortezomib combined with other drugs, or autologous stem cell transplantation. When the abnormal plasma cells are controlled, the other symptoms — including the telangiectasias, erythrocytosis, and lung shunting — often improve significantly or resolve. Early recognition and treatment are important to prevent complications from low oxygen levels and high red blood cell counts.
Also known as:
Key symptoms:
Small red spots on the skin from widened blood vessels (telangiectasias)Too many red blood cells (erythrocytosis or polycythemia)Abnormal protein in the blood from bone marrow plasma cellsFluid buildup around the kidneysLow oxygen levels in the bloodShortness of breathAbnormal blood vessel connections in the lungsFatigue and low energyBluish discoloration of the skin or lips (cyanosis)Flank or back pain from kidney fluid collectionsThickened or sludgy blood from too many red blood cellsNeed for frequent blood draws (phlebotomy) to manage red blood cell levels
Clinical phenotype terms (14)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for TEMPI syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to TEMPI syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current status of my plasma cell disorder, and how does it relate to my other symptoms?,What treatment options are available for TEMPI syndrome, and which do you recommend for me?,How will we monitor whether treatment is working?,Do I need supplemental oxygen, and how should I manage my oxygen levels at home?,How often will I need phlebotomy to manage my red blood cell count?,What are the potential side effects of the recommended treatment?,Are there any specialists or medical centers with experience treating TEMPI syndrome that I should consider consulting?
Common questions about TEMPI syndrome
What is TEMPI syndrome?
TEMPI syndrome is an extremely rare blood and vascular disorder. The name TEMPI is an acronym that stands for its five main features: Telangiectasias (small widened blood vessels visible on the skin), Erythrocytosis (too many red blood cells), Monoclonal gammopathy (an abnormal protein made by plasma cells in the bone marrow), Perinephric fluid collections (fluid buildup around the kidneys), and Intrapulmonary shunting (abnormal blood flow in the lungs that reduces oxygen levels). The condition was first described in 2011 and is classified under plasma cell disorders. Patients with TEMPI synd
How is TEMPI syndrome inherited?
TEMPI syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TEMPI syndrome typically begin?
Typical onset of TEMPI syndrome is adult. Age of onset can vary across affected individuals.