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Hereditary Angioedema (hereditary + angioedema)
Selected AbstractsHereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort,HUMAN MUTATION, Issue 2 2005Olga Roche Abstract Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10 with type II HAE) by SSCP, sequencing, Southern blotting, and quantitative multiplex PCR of short fluorescent fragments (QMPSF), and we characterized several defects at the mRNA level. We found large rearrangements in 13 families, and point mutations or microdeletions/insertions in 74 families. The 13 large rearrangements included nine exon deletions, of which at least eight were distinct, two were distinct exon duplications, and two were rearrangements whose precise nature could not be determined. We confirmed that exon 4 is particularly prone to rearrangements. Thirty-six mutations were unreported, and included 10 microdeletions/insertions, 10 missense, five nonsense, eight splicing, and three splicing or missense mutations. Moreover, we detected six novel uncharacterized sequence variants (USV). RT-PCR studies showed that in addition to several intronic splice site mutations tested, the exonic mutations c.882C>G and c.884T>G, located near the 3, end of exon 5, also produced exon skipping. This is the first evidence of SERPING1/C1NH mutations in coding regions that differ from the canonical splice sites that affect splicing, which suggests the presence of an exonic splicing enhancer (ESE) in exon 5. Hum Mutat 26(2), 1,10, 2005. © 2005 Wiley-Liss, Inc. [source] Hereditary angioedema: an update on available therapeutic optionsJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 9 2010Marcus Maurer Summary There is no cure for hereditary angioedema (HAE). Therapeutic approaches consist of symptomatic therapy for acute attacks, short-term prophylaxis before surgery, and long-term prophylaxis for those with frequent and severe attacks. In Germany, C1-INH concentrate and icatibant are licensed for acute therapy. C1-INH concentrate, which is obtained from human plasma, is administered intravenously to restore the deficient C1-INH activity. This therapy, which has been available for decades, is effective and well-tolerated. Batch documentation is required by German law. The synthetic decapeptide icatibant is administered subcutaneously. It competes with bradykinin, the responsible inducer of edema formation, for binding to the bradykinin B2 receptor. Icatibant is also effective and well-tolerated, even on repeated administration. An additional human C1-inhibitor, a recombinant human C1-inhibitor and the recombinant inhibitor of kallikrein ecallantide are currently under development. There are no licensed treatment options available in Germany for long- and short-term prophylaxis. Androgen derivatives are established in long-term prophylaxis. However, they are associated with many adverse effects, some of which are severe. Many drug interactions also limit their use. They are contraindicated in pregnancy, lactation, for children and in cases of prostate cancer. Antifibrinolytics have fewer adverse effects but are also less effective than androgens. They are contraindicated in thromboembolic disease and impaired vision. If androgen therapy has too negative an effect on quality of life, it may be worth reducing the dose or discontinuing therapy entirely and treating attacks with acute therapy. [source] Peri-operative management of a patient with hereditary angioedema undergoing laparoscopic cholecystectomyANAESTHESIA, Issue 1 2010A. Spyridonidou Summary Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1-esterase inhibitor of the classic complement pathway. It is characterised by recurrent episodes of angioedema, without urticaria or pruritus, most often affecting the skin or the mucosal tissues of the upper respiratory and gastrointestinal tracts. We describe the peri-operative care of a woman with hereditary angioedema undergoing laparoscopic cholecystectomy with emphasis on the role of anaesthetists as peri-operative physicians. [source] Hereditary angioedema and pregnancyAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 1 2009Niranthari CHINNIAH Background:, Hereditary angioedema (HAE) is an autosomal dominant disease caused by a quantitative or functional defect in C1-esterase inhibitor (C1-INH). Patients with this deficiency present with episodes of angioedema which can be life-threatening. Studies examining HAE and pregnancy are scarce with little known about the interrelationship between the two. Objective:, To examine the effect, and evaluate the clinical manifestations of HAE in pregnancy using retrospective interviews of affected women. Methods:, Women with HAE who have undergone one of more pregnancies were identified throughout Australia using the national Australasian Society of Clinical Immunology and Allergy immunodeficiency database. Following informed consent, identified women were interviewed regarding their HAE status during pregnancy and the perinatal period using a questionnaire. Results:, Seven women with a total of 16 pregnancies were identified. During the first trimester of pregnancy, more than ten attacks of angioedema were experienced in six of 16 pregnancies. During the second trimester only in three of 16 pregnancies did women experience greater than ten attacks. During the post-partum period, four of seven women experienced increased frequency and severity of attacks as compared to the pre-pregnancy state. For two of four patients, this impacted on their breast-feeding routine. Conclusion:, Our study showed that women with HAE have greatly reduced or absent attacks in the last two trimesters of pregnancy, although, during the post-partum period, the majority of women experienced increased frequency and severity of attacks. [source] Erratum: Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations,,HUMAN MUTATION, Issue 1 2003Alvaro Blanch The original article to which this Erratum refers was published in Human Mutation 20:405,406 Human Mutation (2002) 20(5) 405,406 The authors regret that there was an error in Table 2 on Page 4 of the original article. In patient DS, the nucleotide change 16838C>T is not correct. It should be 16838G>A, since this was the mutation at the antisense change. [source] Hereditary angioedema: an update on available therapeutic optionsJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 9 2010Marcus Maurer Summary There is no cure for hereditary angioedema (HAE). Therapeutic approaches consist of symptomatic therapy for acute attacks, short-term prophylaxis before surgery, and long-term prophylaxis for those with frequent and severe attacks. In Germany, C1-INH concentrate and icatibant are licensed for acute therapy. C1-INH concentrate, which is obtained from human plasma, is administered intravenously to restore the deficient C1-INH activity. This therapy, which has been available for decades, is effective and well-tolerated. Batch documentation is required by German law. The synthetic decapeptide icatibant is administered subcutaneously. It competes with bradykinin, the responsible inducer of edema formation, for binding to the bradykinin B2 receptor. Icatibant is also effective and well-tolerated, even on repeated administration. An additional human C1-inhibitor, a recombinant human C1-inhibitor and the recombinant inhibitor of kallikrein ecallantide are currently under development. There are no licensed treatment options available in Germany for long- and short-term prophylaxis. Androgen derivatives are established in long-term prophylaxis. However, they are associated with many adverse effects, some of which are severe. Many drug interactions also limit their use. They are contraindicated in pregnancy, lactation, for children and in cases of prostate cancer. Antifibrinolytics have fewer adverse effects but are also less effective than androgens. They are contraindicated in thromboembolic disease and impaired vision. If androgen therapy has too negative an effect on quality of life, it may be worth reducing the dose or discontinuing therapy entirely and treating attacks with acute therapy. [source] Angioedema from angiotensin-converting enzyme (ACE) inhibitor treated with complement 1 (C1) inhibitor concentrateACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 1 2006E. W. Nielsen Background:, Up to seven in every 1000 patients experience angioedema from angiotensin-converting enzyme (ACE) inhibitors, even after many years of use. In 2003, every 20th Norwegian used an ACE inhibitor. Case report:, A 61-year-old woman with chronic obstructive pulmonary disease and a past acute myocardial infarction had used 7.5 mg of ramipril daily for the past 7 years. She also used acetylsalicylic acid, simvastatin, theophylline and salmeterol. One night she woke up with edema of the tongue. On hospital arrival, 250 mg of hydrocortisone and 5 mg of dexchlorpheniramine were given intravenously (i.v.) and 0.3 mg of epinephrine was given subcutaneously (s.c.). The edema of the tongue progressed over the next 8 h and made the tongue protrude. Fiberscopy revealed glassy edema of the arytenoids. Inspiratory stridor was heard and the patient could not speak. She became increasingly uneasy and restless. Berinert® complement 1 (C1) inhibitor concentrate (1500 units) was administered i.v. Over the following 20 min, stridor gradually subsided, the patient calmed and she was able to talk. Discussion:, ACE inhibitor-provoked angioedema shares many clinical features with hereditary angioedema (HAE), including a limited effect of steroids, antihistamines and epinephrine. HAE, caused by excess bradykinin formation as a result of C1 inhibitor deficiency, usually has its laryngeal edema effectively reversed by C1 inhibitor in less than 0.5 h. Although patients experiencing ACE inhibitor-provoked angioedema have normal C1 inhibitor values, as in our patient, excess bradykinin is probably important as ACE breaks down bradykinin. It is unknown why ACE inhibitor-provoked angioedema appears in some and sometimes after many years of use. Conclusion:, We believe that C1 inhibitor was effective in reversing the ACE inhibitor-induced angioedema in our patient. [source] Short-term prophylactic treatment of hereditary angioedema with icatibantALLERGY, Issue 1 2010L. Marqués No abstract is available for this article. [source] New-variant hereditary angioedema in three brothers with normal C1 esterase inhibitor level and functionALLERGY, Issue 5 2004S. Gupta No abstract is available for this article. [source] | ||||||||||