Living with Hereditary thrombophilia due to congenital protein S deficiency
An inherited clotting condition with repeated clots in the veins, caused by low protein S.
Understanding Hereditary thrombophilia due to congenital protein S deficiency
It is caused by reduced making or activity of protein S. It starts in the newborn period or infancy. Skin signs can include red or purple spots and thin skin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blood clot in a deep vein
- Red or purple spots on the skin (purpura)
- Thin skin
- Bleeding under the skin
- Inflamed veins (thrombophlebitis)
- Eye disease affecting the retina
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 PROS1 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 PROS1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive thrombophilia due to congenital protein s deficiency; hereditary protein s deficiency; severe hereditary thrombophilia due to congenital protein s deficiency
Patient organizations
- National Blood Clot AllianceHereditary thrombophilia due to congenital protein S deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary thrombophilia due to congenital protein S deficiency.
Explore research for Hereditary thrombophilia due to congenital protein S deficiency
Explore actively recruiting Hereditary thrombophilia due to congenital protein S deficiency studies with HealthSpark.
Find actively recruiting studies for Hereditary thrombophilia due to congenital protein S deficiency 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hereditary thrombophilia due to congenital protein S deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hereditary thrombophilia due to congenital protein S deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hereditary thrombophilia due to congenital protein S deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.