Living with Upshaw-Schulman syndrome
A blood condition, present from birth, in which clots form in small blood vessels and can affect the brain, kidneys, and heart.
Understanding Upshaw-Schulman syndrome
Symptoms usually start in infancy or early childhood. In some people they do not start until adulthood. The condition can cause a shortage of red blood cells (anemia), low platelets (cells that help blood clot), and problems with the nervous system. Clotting can also affect the kidneys, heart, and digestive system.
Signs & symptoms
Symptoms vary from person to person. GARD describes these as common:
- Yellowing of the skin and eyes (jaundice)
- Tiredness and pale skin
- Shortness of breath and a fast heartbeat
- Headaches, confusion, or seizures
- Personality changes
- Kidney, heart, or stomach and bowel problems
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 blood and bone marrow specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in ADAMTS13 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 United States Thrombotic Microangiopathy Alliance (USTMA) and other patient organizations
- 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
Upshaw-Schulman syndrome is caused by changes in the ADAMTS13 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: congenital adamts-13 deficiency; congenital adamts13 deficiency; congenital thrombotic thrombocytopenic purpura; congenital ttp; familial thrombotic thrombocytopenia purpura; familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome
Patient organizations
- United States Thrombotic Microangiopathy Alliance (USTMA)Upshaw-Schulman syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Upshaw-Schulman syndrome.
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