Living with Hereditary thrombophilia due to congenital protein C deficiency
An inherited blood clotting condition that can be mild or severe, raising the chance of abnormal clots.
Understanding Hereditary thrombophilia due to congenital protein C deficiency
The condition can be mild or severe. People with the mild form are at risk of deep vein thrombosis (clots in deep veins of the arms or legs), which can travel to the lungs. Many never develop clots, but age, surgery, inactivity, or pregnancy can raise the risk. In severe cases, newborns develop widespread clotting called purpura fulminans, with large purple skin patches.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blood clots in the veins
- Red or purple spots on the skin (purpura)
- Thin skin
- Missing or small areas of skin
- Clots in the deep veins of the arms or legs
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, blood and bone marrow specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in PROC 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
- autoimmune and inflammatory disease specialists (rheumatologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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
It is caused by changes in the PROC gene. It can be autosomal dominant or autosomal recessive.
Also known as: autosomal recessive thrombophilia due to congenital protein c deficiency; autosomal recessive thrombophilia due to pc deficiency; hereditary protein c deficiency; hereditary thrombophilia due to pc deficiency; protein c deficiency; protein c deficiency disease
Patient organizations
- National Blood Clot AllianceHereditary thrombophilia due to congenital protein C deficiency · United States
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