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C1 Esterase Inhibitor

Genetic
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Report in 96Hrs

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At Home

nofastingrequire

No Fasting Required

Details

Measures levels of C1 esterase inhibitor.

₹4,359₹6,227

30% OFF

C1 Esterase Inhibitor Test Guide

  • Why is it done?
    • Measures the level and function of C1 esterase inhibitor (C1-INH), a protein that regulates inflammatory and coagulation cascades in the blood
    • Diagnose Hereditary Angioedema (HAE) - a genetic disorder causing recurrent episodes of severe swelling in various body tissues
    • Evaluate unexplained recurrent angioedema, particularly in the face, throat, hands, feet, or gastrointestinal tract
    • Assess acquired C1-INH deficiency in patients with autoimmune or lymphoproliferative disorders
    • Screen family members of patients diagnosed with hereditary angioedema
    • Monitor treatment effectiveness in patients undergoing C1-INH replacement therapy
    • Typically performed when patients present with recurrent angioedema episodes without clear allergic triggers, or when family history suggests hereditary angioedema
  • Normal Range
    • C1-INH Antigen (Protein Level): 21-39 mg/dL (210-390 mg/L)
    • C1-INH Functional Activity: 70-130% of normal (or >50% of normal reference value)
    • C4 Complement Level: 15-45 mg/dL (150-450 mg/L)
    • Normal results indicate adequate C1-INH protein levels and normal inhibitory function, typically ruling out hereditary angioedema types 1 and 2, and acquired C1-INH deficiency
    • Note: Reference ranges may vary slightly between laboratories; results should be interpreted using the specific laboratory's reference values
  • Interpretation
    • Low C1-INH Antigen AND Low Functional Activity (<50%): Consistent with Hereditary Angioedema Type 1 (85% of HAE cases); autosomal dominant inheritance; both protein quantity and function are deficient
    • Normal or Elevated C1-INH Antigen BUT Low Functional Activity: Indicates Hereditary Angioedema Type 2 (15% of HAE cases); protein is present in adequate quantity but is dysfunctional or abnormal
    • Low C1-INH Antigen with Low C4 Levels: Suggests Acquired C1-INH Deficiency; may be associated with lymphoproliferative disorders, autoimmune diseases, or paraproteinemia; typically presents later in life
    • Normal C1-INH with Low C4: May indicate Hereditary Angioedema with Normal C1-INH (HAE-nC1INH or HAE Type 3); genetic mutations in factor XII, plasminogen, or angiopoietin-1; diagnosis requires genetic testing
    • Factors Affecting Results: Acute inflammation or infection may temporarily alter results; stress and hormonal changes can affect C1-INH levels; estrogen-containing medications may lower levels; results should be interpreted with clinical context and may require repeat testing
    • Clinical Significance: Abnormal results strongly suggest hereditary or acquired angioedema; early diagnosis is critical for proper management and prevention of life-threatening airway swelling; normal results in patients with clinical symptoms may warrant genetic testing or evaluation for other causes of angioedema
  • Associated Organs
    • Primary Organ Systems Involved: Immune system (complements and inflammatory mediators), blood vessels and endothelial cells, integumentary system (skin), respiratory tract, gastrointestinal tract, and central nervous system
    • Medical Conditions Associated with Abnormal Results: Hereditary Angioedema (Types 1, 2, and 3), Acquired Angioedema (AAE), Lymphoproliferative disorders (lymphoma, chronic lymphocytic leukemia), Systemic lupus erythematosus (SLE), Rheumatoid arthritis, Sjögren's syndrome, and other autoimmune conditions
    • Diseases Diagnosed or Monitored: Primary diagnosis of hereditary angioedema; differentiation of HAE subtypes; diagnosis of acquired C1-INH deficiency; monitoring of underlying autoimmune or lymphoproliferative conditions
    • Potential Complications from Abnormal Results: Life-threatening airway obstruction and laryngeal edema; severe abdominal pain from intestinal wall edema; deep tissue swelling (hands, feet, face); subcutaneous tissue involvement; recurrent episodes can affect quality of life; complications from diagnostic procedures if unrecognized HAE exists
    • Clinical Management Implications: Abnormal results necessitate specialist referral (immunology, allergy, hematology); patients require prophylactic treatment planning; avoidance of ACE inhibitors and estrogen-containing medications; emergency preparedness for acute attacks; genetic counseling for family members
  • Follow-up Tests
    • Confirmatory Testing: Repeat C1-INH testing to confirm abnormal results; C1q levels (low in acquired deficiency); additional complement studies (C3, total complement, CH50); genetic testing for HAE-nC1INH if clinical suspicion remains high with normal C1-INH levels
    • Further Investigations for Acquired Deficiency: Complete blood count and differential; bone marrow biopsy if indicated; lymph node imaging; immunoelectrophoresis; flow cytometry; cancer screening appropriate to age and risk
    • Complementary Diagnostic Tests: Tryptase levels (to rule out mast cell activation); specific IgE testing and allergy skin testing (to exclude allergic angioedema); factor XII, plasminogen, and angiopoietin-1 gene sequencing (for HAE Type 3 diagnosis)
    • Monitoring During Treatment: Repeat C1-INH levels and function tests 1-2 weeks after starting C1-INH replacement therapy to confirm adequate replacement; periodic monitoring (every 3-6 months) in patients on long-term prophylaxis; C4 levels during maintenance therapy; assessment of attack frequency and severity
    • Family Screening: Testing of first-degree relatives (parents, siblings, children) with same C1-INH assays; genetic counseling for confirmed cases; consideration of prophylaxis in asymptomatic relatives with abnormal lab results
    • Related Tests Providing Complementary Information: Coagulation studies (PT/INR, aPTT); fibrinogen levels; D-dimer (assess thrombotic risk); tissue plasminogen activator (tPA) levels; immunoglobulin studies; autoimmune markers (ANA, rheumatoid factor, anti-CCP)
  • Fasting Required?
    • Fasting Requirement: No - Fasting is NOT required for C1 Esterase Inhibitor testing
    • Patient Preparation: Patients may eat and drink normally before the test; blood draw can be performed at any time of day; no special timing requirements; standard venipuncture precautions apply
    • Medications to Avoid: No specific medications need to be held before testing; however, inform the physician if patient is taking: ACE inhibitors, estrogen-containing oral contraceptives or hormone replacement therapy, systemic corticosteroids, or immunosuppressive agents - these may affect C1-INH levels
    • Additional Preparation Instructions: Avoid strenuous exercise or stress for 24 hours before testing if possible; if patient is in acute angioedema attack, testing may be deferred until attack resolves or appropriate specimen collection method is used; wear comfortable, loose-fitting clothing to facilitate arm access; inform laboratory staff of any history of easy bruising or bleeding disorders
    • Specimen Collection Details: Blood sample collected by venipuncture into specific citrate tube (typically 3.2% sodium citrate); exactly 2.7 mL or 4.5 mL depending on laboratory protocol; proper tube fill is critical for accurate results; label with patient identification, date, and time; deliver to laboratory promptly; specimen stability typically 24 hours at room temperature or 48 hours refrigerated

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