IllnessAngioedema, hereditary, differential diagnosis

NGS +

[Sanger]

Hereditary angioedema is characterized by recurrent episodes of severe swelling of the face, limbs, intestinal tract and airways. Mild trauma, stress and unknown factors can trigger attacks. Swelling in the intestinal tract causes severe pain, nausea as well as vomiting, and swelling in the respiratory tract can lead to life-threatening obstruction. Symptoms typically begin in childhood and worsen during puberty. The frequency and duration of attacks varies widely, even within families. Mutations in the SERPING1 gene cause hereditary angioedema types I and II; mutations in the F12 gene are associated with some cases of hereditary angioedema type III. Other genetic causes have not yet been systematically identified. Classic hereditary angioedema is inherited in an autosomal dominant or recessive manner, multifactorial forms appear to be increasing. Diagnostic yield data for this group of diseases are not available. If no pathogenic variants are identified in candidate genes, the clinical diagnosis is by no means excluded.

References: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063419/

• Alias: Quincke edema: Quincke-Ödem
• Allelic: Complement component 4, partial deficiency of (SERPING1)
• Allelic: Deafness, AD 34, with/-out inflammation (NLRP3)
• Allelic: Dysplasminogenemia (PLG)
• Allelic: Factor XII deficiency (F12)
• Allelic: High molecular weight kininogen deficiency (KNG1)
• Allelic: Keratoendothelitis fugax hereditaria (NLRP3)
• Allelic: Plasminogen deficiency, type I (PLG)
• Angioedema induced by ACE inhibitors, susceptibility to (XPNPEP2)
• Angioedema, hereditary, 7 (MYOF)
• Angioedema, hereditary, 8 (HS3ST6)
• Angioedema, hereditary, type III (F12)
• Angioedema, hereditary, types I + II (SERPING1)
• Autoinflammation, antibody deficiency + immune dysregulation syndrome (PLCG2)
• CINCA [Chronic Infantile Neurologic Cutaneous + Articular] syndrome (NLRP3)
• Carboxypeptidase N deficiency (CPN1)
• Familial cold autoinflammatory syndrome 2 (NLRP12)
• Familial cold autoinflammatory syndrome 3 (PLCG2)
• Familial cold autoinflammatory syndrome 4 (NLRC4)
• Familial cold inflammatory syndrome 1 (NLRP3)
• Hereditary angioedema (ANGPT1)
• Keratoendothelitis fugax hereditaria; Deafness, AD 34, with/-out inflammation (NLRP3)
• Kininogen deficiency (KNG1)
• Muckle-Wells syndrome [urticaria-deafness-amyloidosis] (NLRP3)
• Netherton syndrome (SPINK5)
• Plasminogen deficiency, type I; Dysplasminogenemia (PLG)
• Thrombophilia due to protein C deficiency, AD, AR (PROC)