A case of hereditary angioedema involving recurrent abdominal attacks.

A 44-year-old Japanese woman was diagnosed with type 1 hereditary angioedema (HAE) at the age of 30. In March 2007, she began suffering from severe abdominal pain due to intestinal edema. After treatment with C1-INH concentrate, her symptoms disappeared. However, during the subsequent three years, the frequency of the attacks increased continuously, and C1-INH concentrate was necessary for treatment of every attack. The increase in the number of attacks might have been due to the frequent injection of C1-INH concentrate or the deterioration of her disease course. In a genetic investigation, the patient was found to have a novel mutation in the C1-INH gene.

[1]  K. Akashi,et al.  Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases , 2012, The American journal of the medical sciences.

[2]  K. Bork,et al.  Hereditary angioedema: increased number of attacks after frequent treatments with C1 inhibitor concentrate. , 2009, The American journal of medicine.

[3]  M. Frank.  8. Hereditary angioedema. , 2008, The Journal of allergy and clinical immunology.

[4]  M. Price,et al.  C1 inhibitor deficiency , 2005, Clinical and experimental dermatology.

[5]  M. Borum,et al.  Hereditary angioedema. Complex symptoms can make diagnosis difficult. , 1998, Postgraduate medicine.

[6]  C. Feighery,et al.  Degradation of C1-Inhibitor by Plasmin: Implications for the Control of Inflammatory Processes , 1997, Molecular medicine.

[7]  F. Rosen,et al.  Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate. , 1996, The New England journal of medicine.

[8]  M. Daha,et al.  Cleavage and inactivation of human C1 inhibitor by the human leukocyte proteinase, proteinase 3 , 1993, European journal of immunology.

[9]  J. A. Grant,et al.  Hereditary angioedema: its diagnostic and management perspectives. , 1990, The American journal of medicine.

[10]  J. Catanese,et al.  Enzymatic inactivation of human plasma C1-inhibitor and alpha 1-antichymotrypsin by Pseudomonas aeruginosa proteinase and elastase. , 1984, Biochimica et biophysica acta.

[11]  Harpel,et al.  Proteolytic cleavage and inactivation of alpha 2-plasmin inhibitor and C1 inactivator by human polymorphonuclear leukocyte elastase. , 1982, The Journal of biological chemistry.

[12]  J. Atkinson,et al.  Hereditary angioedema: the clinical syndrome and its management. , 1976, Annals of internal medicine.

[13]  R. R. Evans,et al.  A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE. , 1963, The American journal of medicine.

[14]  K. Schulz,et al.  Hereditary angioedema , 2004, Humangenetik.