Living with Thrombophilia due to protein C deficiency, autosomal recessive
An inherited clotting condition in which too little protein C makes blood clots more likely.
Understanding Thrombophilia due to protein C deficiency, autosomal recessive
It can be very severe, with newborn skin bleeding (neonatal purpura fulminans) or clots in the brain. It can also be milder, with clots in the veins (venous thromboembolism) starting in childhood, the teen years, or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated deep vein blood clots
- Blood clot in the lungs (pulmonary embolism)
- Low protein C activity
- Red or purple skin spots (purpura)
- Seizures
- Developmental delay
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 National Blood Clot Alliance
- 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
This condition is caused by changes in the PROC gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: proc deficiency, autosomal recessive; protein c deficiency, autosomal recessive; thrombophilia 3 due to protein c deficiency, autosomal recessive
Patient organizations
- National Blood Clot AllianceThrombophilia due to protein C deficiency, autosomal recessive · United States
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