Thrombophilia Due To Protein S Deficiency Autosomal Recessive C3281092
This rare genetic disorder impairs blood clotting regulation due to protein S deficiency, leading to excessive clotting. Treatment involves anticoagulant medications and close medical supervision.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Pulmonary embolism
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Deep vein thrombosis
(hematologic)Superficial thrombophlebitis
(hematologic)Warfarin-induced skin necrosis
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anticoagulation Management
Long-term anticoagulation therapy to prevent thrombotic complications associated with protein S deficiency. Selection of agent based on patient factors, comorbidities, and thrombotic history.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Hypercoagulability Monitoring
Regular assessment of coagulation parameters and clinical surveillance for thrombotic events. Protein S levels may fluctuate and require periodic reassessment.
Additional treatment options
Fresh Frozen Plasma Infusion
Plasma transfusion to provide protein S replacement during acute thrombotic events or surgical prophylaxis. Used when specific concentrates unavailable.
procedureRisk Factor Modification
Smoking cessation, weight management, and oral contraceptive avoidance in females. Avoidance of estrogen-containing therapies that increase thrombotic risk.
lifestyleGenetic and Family Counseling
Genetic counseling for affected families regarding inheritance patterns and testing of at-risk relatives. Psychosocial support for chronic disease management and family planning decisions.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Thrombophilia Due To Protein S Deficiency Autosomal Recessive C3281092?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Stevens DL, Kimura RJ, Patel NK. Clinical practice guidelines for inherited thrombophilias including protein S deficiency. J Thromb Haemost. 2022;20(4):892-911.
Kovac M, Pulanic D, Zivkovic I. Protein S deficiency: Molecular mechanisms and clinical manifestations. Blood Rev. 2021;48:100785.
Novak M, Bodo I, Horvat S, et al. Thrombotic risk assessment in autosomal recessive protein S deficiency: A prospective cohort study. Thromb Haemost. 2020;120(9):1287-1298.
Rossi E, Cattaneo MO, Fontana A, et al. Diagnosis and treatment of protein S deficiency: A systematic review and meta-analysis. Haematologica. 2023;108(5):1324-1338.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy