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Post by LymeEnigma on Jan 15, 2009 17:52:40 GMT -8
Hereditary angioedema is an inherited deficiency of a blood protein called C1 inhibitor (C1-INH) which causes episodes of swelling (edema) in parts of the body. It is due to a genetic defect of chromosome 11. Hereditary angioedema occurs in about 1 in 50,000 to 150,000 people worldwide (1 in 10,000 to 50,000 people in the United States). It affects both men and women of all ethnic backgrounds. There are three types of hereditary angioedema. In Type I, individuals have low levels of normal C1-INH. In Type II, individuals have normal or elevated levels of C1-INH, but it does not function correctly. Type III is an estrogen-dependent form of angioedema that occurs only in women. Individuals with hereditary angioedema may also have systemic lupus erythematosus or other autoimmune disorders. Symptoms Although individuals are born with hereditary angioedema, most children do not experience symptoms until puberty. The symptoms occur in episodes or attacks which often happen for no reason. Other causes of attacks may be anxiety, stress, minor injury, surgery, or illness. Some women report more attacks during their menstrual periods. Attack symptoms may include: * Before the attack: tightness or tingling at the site where the swelling will later occur * flat, red blotchy rash (erythema marginatum) breaks out * mood changes, anxiety, exhaustion * During the attack: swelling of body parts such as hands, feet, face, arms, or legs * internal swelling in abdomen may cause pain, nausea, and vomiting * swelling of the airway may cause difficulty swallowing, change in voice pitch, or difficulty breathing The swelling may take 24 to 72 hours to go away, but the attack symptoms may last up to five days. Diagnosis Since the symptoms of hereditary angioedema may be caused by other disorders (such as an allergic reaction), blood tests or genetic tests are needed to confirm the diagnosis. Two specific blood tests for hereditary angioedema check the level of C1-INH and whether it is functioning properly. If the disorder is present, the levels of C1-INH would be low or poorly functioning. Genetic testing could look for one of the known gene defects of chromosome 11 associated with hereditary angioedema. Full article: rarediseases.about.com/od/rarediseasesa/a/angioedema.htm
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Post by LymeEnigma on Jan 15, 2009 17:54:36 GMT -8
History * A family history of HAE is typically obtained, although spontaneous mutations may occur. * Symptoms are referable to 3 prominent sites: subcutaneous tissues (face, hands, arms, legs, genitals, and buttocks); abdominal organs (stomach, intestines, bladder, and kidneys), which may manifest as vomiting, diarrhea, or paroxysmal colicky pain and mimic a surgical emergency; and the upper airway (larynx) and tongue, which may result in laryngeal edema and upper airway obstruction. * Attacks usually occur at a single site, but simultaneous involvement of subcutaneous tissue, viscera, and the larynx is not uncommon. Nonpitting cutaneous swelling is the most commonly reported symptom, and it mainly affects the extremities, the genitalia, and the face. Acute abdominal pain, nausea, and vomiting are the dominant symptoms in 25% of patients with HAE and are rarely seen in people with other forms of angioedema. The lifetime incidence of a laryngeal attack is estimated at 70%. * Mucosal edema of the bladder or urethra can result in urinary retention, stammering, pain, or anuria. * Episodes of severe headaches, visual disturbances (eg, blurred vision, diplopia), and ataxia have been reported. * Cases of painful muscle swelling and unilateral hip or shoulder involvement have also been cited. * Attacks may be preceded several hours in advance by sudden mood changes, anxiety, sensory changes, or exhaustion. * Patients often report episodes of swelling worsening over a period of 12-24 hours, usually with resolution within 72 hours. Symptoms can persist for up to 5 days, with migration of swelling to different sites. The edema is usually unresponsive to antihistamines. Attacks are usually periodic and are commonly followed by weeks of remission. * Pediatric episodes are usually less frequent and commonly manifest as abdominal involvement. Physical * Physical signs include overt, noninflammatory swelling of the skin and mucous membranes. Typical involvement includes the face, hands, arms, legs, genitalia, and buttocks, although the edema can localize subcutaneously at any site. In some patients with severe edema, tension vesicles or bullae may develop. * In approximately 25% of patients, erythema may precede the occurrence of edema. An estimated 30-50% of patients with HAE reportedly have erythema marginatum preceding or accompanying the attacks. Urticaria is not usually associated with HAE.1 * Abdominal examination may reveal signs consistent with acute abdomen or abdominal obstruction. Ascites is often present with an abdominal attack associated with angioedema. * Mucosal involvement with glossal, pharyngeal, or laryngeal edema may cause respiratory obstruction and signs of distress. * Additional rare physical findings that have been reported are pleuritic symptoms with pleural effusions, seizures and hemiparesis secondary to cerebral edema, and bladder edema.Full article: emedicine.medscape.com/article/1048994-overview
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Post by LymeEnigma on Jan 16, 2009 22:35:24 GMT -8
Angioedema due to acquired C1-inhibitor deficiency: a bridging condition between autoimmunity and lymphoproliferation. Cugno M, Castelli R, Cicardi M. Department of Internal Medicine, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy. massimo.cugno@unimi.it Angioedema due to an acquired deficiency in the inhibitor of the first component of human complement (CI-INH) is a rare syndrome that is usually identified as acquired angioedema (AAE). The clinical features of C1-INH deficiency, which may also be of genetic origin (hereditary angioedema, HAE), include subcutaneous, non-pruritic swelling, involvement of the upper respiratory tract, and abdominal pain due to partial obstruction of the gastrointestinal tract. Unlike those with HAE, AAE patients have no family history of angioedema and are characterised by the late onset of symptoms and various responses to treatment due to the hypercatabolism of C1-INH. The reduction in C1-INH function leads to activation of the classical complement pathway and complement consumption, as well as activation of the contact system leading to the generation of the vasoactive peptide bradykinin, increased vascular permeability, and angioedema. AAE is frequently associated with lymphoproliferative diseases ranging from monoclonal gammopathies of uncertain significance (MGUS) to non-Hodgkin's lymphoma (NHL) and/or anti-C1-INH inactivating autoantibodies. The coexistence of true B cell malignancy, non-malignant B cell proliferation and pathogenic autoimmune responses suggests that AAE patients are all affected by altered B cell proliferation control although their clinical evolution may vary. PMID: 19014872 [PubMed - in process] www.ncbi.nlm.nih.gov/pubmed/19014872
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Post by LymeEnigma on Jan 16, 2009 22:36:18 GMT -8
Hereditary angioedema in a family presenting as transient periarthritis. Adhikesavan LG, Olenginski TP. Department of Rheumatology, Geisinger Medical Center, Danville, PA-17822, USA. lgadhikesavan@geisinger.edu Hereditary angioedema (HAE) is a rare condition known to cause episodic, self-limiting, nonpruritic, nonpitting edema that involves skin and visceral organs. It may affect any external body surface including face, extremities, and genitalia. Most commonly involved viscera are gastrointestinal and respiratory systems. Patients may have severe abdominal pain because of edema of the bowel wall. This disease can cause life threatening laryngeal edema if it involves the airway.We describe a patient with HAE who was initially diagnosed with arthritis after she had recurrent edema around her peripheral joints. Diagnosis of HAE in her led to the same diagnosis in her sister and her father. HAE should be considered in the differential diagnosis of recurrent attacks of periarticular swelling. PMID: 18824924 [PubMed - in process] www.ncbi.nlm.nih.gov/pubmed/18824924
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Post by LymeEnigma on Jan 16, 2009 22:37:00 GMT -8
Disease expression in women with hereditary angioedema. Bouillet L, Longhurst H, Boccon-Gibod I, Bork K, Bucher C, Bygum A, Caballero T, Drouet C, Farkas H, Massot C, Nielsen EW, Ponard D, Cicardi M. Department of Internal Medicine, Grenoble University Hospital, Grenoble, France. OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills improved it for 64%. During pregnancies, 38% of women had more attacks, but 30% had fewer attacks. Vaginal delivery was usually uncomplicated. Attacks occurred within 48 hours in only 6% of cases. Those more severely affected during menses had more symptoms during pregnancies, suggesting a hormone-sensitive phenotype for some patients. CONCLUSION: The course of angioedema in women with C1 inhibitor deficiency is affected by physiologic hormonal changes; consequently, physicians should take these into account when advising on management. PMID: 18554570 [PubMed - indexed for MEDLINE] www.ncbi.nlm.nih.gov/pubmed/18554570
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Post by LymeEnigma on Jan 16, 2009 22:37:43 GMT -8
Successful resolution of bowel obstruction in a patient with hereditary angioedema. Zingale LC, Zanichelli A, Deliliers DL, Rondonotti E, De Franchis R, Cicardi M. Department of Clinical Science L. Sacco, University of Milan, Ospedale L. Sacco, Milan, Italy. Hereditary angioedema (HAE), a rare genetic disorder caused by a deficiency of the C1 esterase inhibitor, leads to an episodic, self-limiting increase in vascular permeability. Related symptoms commonly include recurrent, intractable abdominal pain, vomiting, and/or diarrhea. DX-88 (ecallantide), a 60-amino acid recombinant protein discovered through phage display technology, is a highly specific, potent inhibitor of human plasma kallikrein that has been used successfully in the treatment of patients experiencing acute HAE attacks. This case study involves a 65-year-old woman who presented with severe abdominal pain, cramping, and nausea. The study describes the use of a video obtained by capsule endoscopy for the direct imaging of bowel occlusion in a patient with HAE that resolved upon treatment with DX-88. After administration of DX-88, 80 mg intravenously, abdominal pain and nausea resolved within 30 min. Capsule endoscopy demonstrated a coincident resolution of the bowel wall edema, with a return to normal within approximately 1.5 h of DX-88 administration. This case study demonstrates that DX-88 can produce dramatic clinical benefits in a patient with an acute abdominal HAE attack, resolving both symptoms and pathologic signs. Furthermore, it illustrates the usefulness of videos obtained from capsule endoscopy in identifying the presence of bowel occlusion and demonstrating its subsequent rapid resolution upon administration of DX-88. PMID: 18467921 [PubMed - in process] www.ncbi.nlm.nih.gov/pubmed/18467921
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Post by LymeEnigma on Jan 16, 2009 22:38:27 GMT -8
Hereditary angioedema and pregnancy A successful outcome using C1 esterase inhibitor concentrate Peter J. Gorman, MD CCFP Family physician practising full-service family medicine, including obstetrics, emergency room shifts, and teaching with the University of Northern British Columbia, in Prince George, BC Correspondence to: Dr Peter Gorman, 2155 10th Ave, Suite 209, Prince George, BC V2M 5J6; telephone 250 562-5166; e-mail peter.gorman@northernhealth.ca Hereditary angioedema is a relatively uncommon condition. It manifests as episodes of abdominal pain and angioedema and can be a painful and even life-threatening disease.1 With respect to this disease and pregnancy, there is a paucity of information in the literature. The case below, which presents a pregnant patient with hereditary angioedema, illustrates the difficulty in diagnosing and managing the disease and the patient’s successful treatment with C1 esterase inhibitor (C1-INH) concentrate given routinely throughout the full term of her pregnancy and before the cesarean section delivery. Full article (free): www.cfp.ca/cgi/content/full/54/3/365
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