Protein C deficiency
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Synopsis
Two subtypes are described. Type 1 deficiency refers to reduced protein C antigen and activity levels due to mutation in the PROC gene. Type 2 deficiency refers to a qualitative defect (reduced protein C function with normal antigen levels) also caused by mutation in the PROC gene.
Most cases are heterozygous, although rare cases of homozygous or compound heterozygous mutation have been described. If a mutant allele is inherited from both parents, the results can be severe deficiency of protein C, causing neonatal purpura fulminans at birth.
Acquired cases of protein C deficiency can develop in a variety of scenarios, including hepatic congestion in the setting of right heart failure, severe liver disease, vitamin K deficiency, sepsis, bacterial infection, uremia, acute thrombosis, warfarin or vitamin K antagonist use, certain chemotherapy agents, and disseminated intravascular coagulation.
Patients with protein C deficiency are at an increased risk of developing VTE due to immobility, surgery, trauma, pregnancy, oral contraceptive use, or cancer.
Codes
ICD10CM:D68.59 – Other primary thrombophilia
SNOMEDCT:
76407009 – Protein C deficiency disease
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Other inherited thrombophilias (factor V Leiden mutation, protein S deficiency, antithrombin deficiency, prothrombin G20210A mutation)
- Myeloproliferative neoplasm
- Antiphospholipid syndrome
- Paroxysmal nocturnal hemoglobinuria
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Therapy
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Drug Reaction Data
Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.Subscription Required
References
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Last Reviewed:09/10/2019
Last Updated:01/23/2022
Last Updated:01/23/2022