Living with Tempi syndrome
A newly described adult condition with visible small blood vessels, high red blood cells, and low blood oxygen.
Understanding Tempi syndrome
TEMPI stands for Telangiectasias, Erythrocytosis with high erythropoietin, Monoclonal gammopathy, Perinephric fluid collections (fluid around the kidney), and Intrapulmonary shunting. Signs appeared in mid-adulthood in all known cases. The lung shunt lowers oxygen, which slowly worsens until continuous extra oxygen is needed. Blood clots and brain bleeding have been reported in some.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small red blood vessels on the skin (telangiectasias)
- High red blood cell count
- Low blood oxygen
- Fluid around the kidney
- Blood clots
- Bleeding in the brain (some people)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the cause is currently unknown.
Also known as: telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome; telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tempi syndrome.
Explore research for Tempi syndrome
Explore actively recruiting Tempi syndrome studies with HealthSpark.
Find actively recruiting studies for Tempi syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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