A focused parameter update: Hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor–associated angioedema

Zuraw, Bruce L.; Bernstein, Jonathan A.; Lang, David M.; Craig, Timothy J.; Dreyfus, David H.; Hsieh, Fred H.; Khan, David A.; Sheikh, Javed; Weldon, David; Bernstein, David I.; Blessing-Moore, Joann; Cox, Linda; Nicklas, Richard A.; Oppenheimer, John; Portnoy, Jay M.; Randolph, Christopher; Schuller, Diane E.; Spector, Sheldon L.; Tilles, Stephen A.; Wallace, Dana

doi:10.1016/j.jaci.2013.03.034

Cited by 153 publications

(201 citation statements)

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“…AAE might be the presenting symptom [5]. Rarely, nonlymphoproliferative diseases were reported to be associated with AAE, mostly systemic lupus erythematosus, acute hepatitis B infection, and human immunodeficiency virus infection [7,8]. Whereas HAE results from low levels or an abnormal function of the serine protease C1 esterase inhibitor, AAE entails the enhanced catabolism of the C1INH, sometimes associated with C1INH autoantibodies.…”

Section: Commentarymentioning

confidence: 99%

“…Although ecallantide and icatibant are not FDA-approved for acute attacks in AAE patients, both drugs have been reported to be efficacious for in this setting [9]. AAE patients may be less responsive to androgens and experience more efficiency of antifibrinolytic treatment compared to HAE patients [7]. Most importantly, when possible, the underlying disorder should be treated.…”

Section: Commentarymentioning

confidence: 99%

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2014

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A 60-year-old woman was admitted for evaluation of a two day history of afebrile watery diarrhea, nausea, vomiting, and diffuse abdominal pain. She had not eaten outside her home, has not traveled recently and has not been exposed to animals. No one in her vicinity had similar symptoms.Although the differential diagnosis for abdominal pain, diarrhea, and vomiting is broad, I would first consider infectious gastroenteritis, the most common cause of acute diarrhea. A targeted medical history for recent travel, antibiotic treatment, similar symptoms in relatives or coworkers and eating out may offer diagnostic clues. Noninfectious causes of acute diarrhea in a 60-year-old patient include medications' side effects, ischemic colitis, and diverticulitis. Conditions causing chronic diarrhea might be confused with acute diarrhea early in their course.The patient's past medical history was significant for untreated stage II chronic lymphocytic leukemia (CLL) known for 3 years, with splenomegaly, stable lymphocytosis, and otherwise normal blood counts. She also had essential hypertension and hypertriglyceridemia. Her medications were ramipril, disothiazide, bezafibrate, and aspirin.Diarrhea in patients with CLL can have many etiologies. Acute diarrhea is commonly infectious and unrelated to CLL, with most pathogens being viruses (e.g., adenovirus, rotavirus, and Norwalk virus) or various bacteria (e.g., Escherichia coli, Clostridium difficile, Campylobacter jejuni, Salmonella, and Shigella spp.). Opportunistic pathogens (e.g., microsporidia and cryptosporidium) are more common after treatment with immunomodulating drugs (e.g., fludarabine). Noninfectious causes include chemotherapy-related diarrhea, which can be life threatening. CLL itself might rarely cause diarrhea through direct bowel involvement.On physical examination, the blood pressure was 90/55 mmHg, pulse 60 beats/min, temperature 35 C and respiratory rate 18. There was diffuse abdominal tenderness but no peritoneal irritation; the liver span was 12 cm in the midclavicular line; the spleen was palpated 4 cm below the rib line.Labs showed a white-cell count of 14,000 mm 23 (68% lymphocytes), hematocrit level at 37.5%, and platelet count at 120 mm 23 . The serum sodium level was 133 mmol/l, potassium 4.3 mmol/l, urea 52 mg/dl, and creatinine 1.68 mg/dl (the patient's baseline creatinine level was 0.87 mg/dl). Arterial blood gas results were normal.The approach to a patient with acute diarrhea depends on its severity and the patient's comorbidities. This patient's hypotension and acute renal failure warrant further workup. Leukocytosis and thrombocytopenia could indicate severe infection, but could also be CLL-related. I would start with intravenous infusion of isotonic saline, order blood and stool cultures and proceed with hemodynamic and laboratory monitoring while rehydrating the patient.The patient received aggressive hydration therapy and was treated empirically with intravenous ciprofloxacin and metronidazole for a presumed intra-abdominal major infection. A...

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Section: Commentarymentioning

confidence: 99%

Section: Commentarymentioning

confidence: 99%

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2014

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“…Various types of mutations in the C1-INH gene result in diminished levels or function of C1-INH protein (HAE type I) or normal or elevated levels of C1-INH, which is not fully functional (HAE type II). 2 Type III is less common, and therefore not as well known. Unlike type I and II, there is no change in C1-INH level or functionality in HAE type III, yet similar symptoms are present.…”

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confidence: 99%

How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema

Gökmen¹,

Gülbahar²,

Koç³

et al. 2015

Turkiye Klinikleri J Med Sci

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H ereditary angioedema (HAE) is a rare but serious genetic disorder characterized by angioedema attacks in the skin, gastrointestinal tract and upper airway that can be spontaneous or the result of var- The questionnaire included HAE-related questions as well as demographic items. R Re es su ul lt ts s: : Most doctors (93.5%) reported that they had heard of HAE, and 41.9% had followed at least one patient with HAE, however, 22% of them understood the role of C1 inhibitor in HAE, but 38.7% had no idea about HAE pathogenesis. The only fatal symptom, laryngeal edema, was named by 18% of respondents. Five percent of the respondents knew C4 level was the screening test; 6% knew that C1-INH level/function analysis is necessary for diagnosis. Approximately 10.3% of respondents knew an effective treatment for acute attacks; 18.7% knew a long-term prophylactic therapy. C Co on nc cl lu us si io on n: : We concluded that although most internists are aware of HAE, they are not knowledgeable enough to diagnose and manage the disease. K Ke ey y W Wo or rd ds s: : Angioedemas, hereditary; complement c1 inhibitor protein; physicians; internal medicine; knowledge; awareness Ö ÖZ ZE ET T A Am ma aç ç: : Herediter anjiyoödem (HA), deride, gastrointestinal sistemde ve larinkste tekrarlayıcı şişlik ataklarıyla seyreden nadir, genetik bir hastalıktır. Larinks atakları özellikle tanı almamış ya da hatalı tanı konmuş hastalarda ölümcül olabilmektedir. Türkiye'de HA tanısı ortalama 26 yıl kadar gecikmiş durumdadır. Bu çalışma, ülkemiz hekimlerinin HA'dan ne ölçüde haberdar olduklarını araştır-mak için tasarlanmıştır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : 14. Ulusal İç Hastalıkları Kongresi'ne katılan 155 iç hastalıkları uzmanına bu hastalıkla ilgili 20 soru yöneltilerek hastalık hakkındaki bilgileri değerlen-dirilmiştir. B Bu ul lg gu ul la ar r: : Hekimlerin önemli bir kısmı (%93,5) HA'yı duyduğunu ve %41,9'u en az bir HA hastası takip ettiğini bildirmekle birlikte, sadece %22'si HA'da C1 inhibitörün rolünün ne olduğunu biliyor iken %38,7'si HA'nın patogenezi hakkında bir fikre sahip değildi. Hastalığın fatal semptomu olan larinks ödemi, ankete katılanların %18'i tarafından biliniyordu. Katılımcıların %5'i C4'ün tarama testi olduğunu, %6'sı C1 inhibitör düzey/işlevinin tanı için gerekli olduğunu biliyordu. Ankete katılanların %10,3'ü akut atakların tedavisinde kullanılan bir ilacın varlığından haberdar iken, %18,7'si uzun süreli profilakside ne kullanılacağı hakkında fikir sahibi idi. S So on nu uç ç: : Bu çalışmada, iç hastalık-ları uzmanlarının çoğunun bu hastalıktan haberdar olduğu, ancak bu hastalığa tanı koyma ve hastalığın tedavisini yönetme açısından yeterli bilgiye sahip olmadıkları sonucuna varılmıştır.A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Anjiyoödemler, herediter; kompleman C1 inhibitör protein; doktorlar; iç hastalıkları; bilgi; farkındalık T Tu ur rk ki iy ye e K Kl li in ni ik kl le er ri i J J M Me ed d S Sc ci i 2 20 01 15 5; ;3 35 5( (2 2) ): :6 67 7--7 72 2

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“…Bunlar anabolik steroidler, antifibrinolitikler ve C1 inhibitörlerdir (15). Biz olgumuzda traneksamik asid tercih ettik.…”

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“…Bu tedavi yaklaşımına, kısa süreli profilaksi denilmektedir (15). Hiç bir olgumuzda kısa süreli tedavi kullanmak zorunda kalmadık.…”

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A Rare Cause of Abdominal Pain in Children: Hereditary Angioedema

Özçeker¹,

Tamay²,

Çıtak³

et al. 2015

Haseki

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ÖzetHerediter anjioödem (HA); tekrarlayan anjioödem atakları ile seyreden, nadir görülen otozomal dominant kalıtılan bir hastalıktır. Anjioödem en sık kol ve bacaklarda, yüzde, boyunda, solunum yollarında, genital bölgede ve visseral organlarda görülür. İntestinal mukoza ödemi geçici obstrüksiyona ve akut batın ile karışabilen şiddetli karın ağrılarına neden olabilir. Burada olgu sunuları eşliğinde karın ağrısı ile gelen çocukta bu nadir nedeni çocuk ve acil hekimlerinin hatırlamasını sağlamak amaçlandı. Abs tractHereditary angioedema (HA) is a rare, autosomal-dominant genetic disorder presenting with recurrent attacks of angioedema. The most commonly involved organs include the extremites, face, neck, upper respiratory tract, genital region and the gastrointestinal tract. Edema of the intestinal mucosa can cause temporary obstruction and severe abdominal pain that can be confused with acute abdomen. Pediatricians and emergency physicians should keep in mind this rare disease in the differential diagnosis of severe abdominal pain. (The Me di cal Bul le tin of Ha se ki 2015; 53: 98-100)

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A focused parameter update: Hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor–associated angioedema

Cited by 153 publications

References 136 publications

Searching for the leak

Searching for the leak

How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema

A Rare Cause of Abdominal Pain in Children: Hereditary Angioedema

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