Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in gene.

Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.

Objective: Here we present the first complex analysis of the National HAE Slovakian cohort with the detection of 12 previously un-published genetic variants in gene.

Methods: In patients diagnosed with hereditary angioedema caused by deficiency or dysfunction of C1 inhibitor (C1-INH-HAE) based on clinical manifestation and complement measurements, gene was tested by DNA sequencing (Sanger sequencing/massive parallel sequencing) and/or multiplex ligation-dependent probe amplification for detection of large rearrangements.

[Initial use of subcutaneous plasma-derived C1 inhibitor in prophylaxis of acute attacks of hereditary angioedema in pregnant patients in Slovakia].

Hereditary angioedema (HAE) is a rare, inborn disease manifested with recurrent attacks of angioedema. They can affect the skin and subcutaneous tissue, mucous membranes (gastrointestinal, respiratory, and uropoietic tracts), and submucous tissue. Women in reproductive age require specific management of the disease regarding both the course of the disease and treatment options.

Recombinant human C1 esterase inhibitor for hereditary angioedema attacks: A European registry.

Background: Hereditary angioedema (HAE) due to C1 esterase inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling attacks. A European treatment registry was established to review the adverse event profile and efficacy of recombinant human C1 esterase inhibitor (rhC1-INH) for HAE attacks.

Methods: Individuals with C1-INH-HAE were enrolled following a decision to treat with rhC1-INH and provision of written informed consent.

[What is hiden behind autoinflammation?].

Autoinflammatory diseases represent a group of disorders that are distinct from autoimmune diseases, infections and malignancies. They are characterised by attacks of unprovoked noninfectious inflammation. A key feature of autoinflammatory diseases is dysregulation of innate immune system and overproduction of pro-inflammatory cytokines.