Abstract
Background and aimsHereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by localized, non-pitting, and transient swelling of submucosal or subcutaneous region. Human fetuin-A is a multifunctional glycoprotein that belongs to the proteinase inhibitor cystatin superfamily and has structural similarities to the high molecular weight kininogen. Fetuin-A is also known a negative acute phase reactant with anti-inflammatory characteristics. In this study we aimed to determine serum fetuin-A, C-reactive protein (CRP) and tumor necrosis factor alpha (TNFα) concentrations in patients with C1-INH-HAE during symptom-free period and during attacks and compare them to those of healthy controls. Further we analyzed possible relationship among these parameters as well as D-dimer levels which was known as marker of HAE attacks.Patients and methodsSerum samples of 25 C1-INH-HAE patients (8 men, 17 women, age: 33.1 ± 6.9 years, mean ± SD) were compared to 25 healthy controls (15 men, 10 women, age: 32.5 ± 7.8 years). Serum fetuin-A and TNFα concentrations were determined by ELISA, CRP and D-dimer by turbidimetry.ResultsCompared to healthy controls patients with C1-INH-HAE in the symptom-free period had significantly decreased serum fetuin-A 258 μg/ml (224–285) vs. 293 μg/ml (263–329), (median (25–75% percentiles, p = 0.035) and TNFα 2.53 ng/ml (1.70–2.83) vs. 3.47 ng/ml (2.92–4.18, p = 0.0008) concentrations. During HAE attacks fetuin-A levels increased from 258 (224–285) μg/ml to 287 (261–317) μg/ml (p = 0.021). TNFα and CRP levels did not change significantly. We found no significant correlation among fetuin-A CRP, TNFα and D-dimer levels in any of these three groups.ConclusionsPatients with C1-INH-HAE have decreased serum fetuin-A concentrations during the symptom-free period. Given the anti-inflammatory properties of fetuin-A, the increase of its levels may contribute to the counter-regulation of edema formation during C1-INH-HAE attacks.
Highlights
Hereditary angioedema with C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare autosomal dominant disorder [1] characterized by the decreased of C1 inhibitor (C1-INH) activity
We found no significant correlation among fetuin-A C-reactive protein (CRP), tumor necrosis factor-α (TNFα) and D-dimer levels in any of these three groups
Given the anti-inflammatory properties of fetuin-A, the increase of its levels may contribute to the counterregulation of edema formation during C1-INH-HAE attacks
Summary
Hereditary angioedema with C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare autosomal dominant disorder (estimated prevalence: 1:150,000 to 1:10,000) [1] characterized by the decreased of C1 inhibitor (C1-INH) activity. The deficiency of C1-INH leads to the uncontrolled, spontaneous activation of these plasma enzyme systems. Contact-kinin system activation results in the release of the vasoactive mediator bradykinin from high molecular weight kininogen (HMWK), which causes vasodilation, increased vascular permeability, and plasma leakage into the extracellular space, leading to edema formation [2,3,4]. The HAE attacks may involve the extremities, the face, the trunk genitals, and submucosal tissues in the gastrointestinal tract and upper airways. Angioedema may mimic an abdominal catastrophe, whereas in the upper airways, it may cause obstruction leading to suffocation [5]. Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by localized, non-pitting, and transient swelling of submucosal or subcutaneous region. Further we analyzed possible relationship among these parameters as well as D-dimer levels which was known as marker of HAE attacks
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