Manifestation Of Hereditary Angioedema Research Articles

АБДОМИНАЛЬНАЯ АТАКА В ДЕБЮТЕ НАСЛЕДСТВЕННОГО АНГИООТЕКА У ДЕВУШЕК С ПЕРВИЧНОЙ ДИСМЕНОРЕЕЙ НА ФОНЕ ТЕРАПИИ КОМБИНИРОВАННЫМИ ОРАЛЬНЫМИ КОНТРАЦЕПТИВАМИ

Hereditary angioedema (HAE) is an orphan potentially life-threatening disease characterized by recurrent edema of the skin, mucous/submucosal membranes and is genetically determined. In most cases, there are peripheral edemas and manifestations of marginal erythema at the onset of the disease, much less often - abdominal syndrome. Among patients with HAE, there is a clear predominance of women. In this regard, girls in puberty with primary dysmenorrhea and various menstrual disorders are of particular interest. In the treatment of adolescent girls suffering from these nosologies, combined oral contraceptives (COCs) are often used. The debut of manifestations of HAE in the form of severe abdominal attacks in girls with dysmenorrhea during COC therapy has not yet been described. The article presents descriptions of cases of patients with the outset of HAE in the form of abdominal attacks that developed against the background of treatment of primary dysmenorrhea with COCs. The importance of awareness of pediatricians, pediatric surgeons, gynecologists and doctors of other profiles about this nosology is demonstrated using the examples of these clinical cases’ data.

Clinical features and burden of genital attacks in hereditary angioedema

Hereditary angioedema (HAE) is a rare disease characterized by swelling of several anatomical areas.1 Genital and urinary symptoms are well-known but poorly described manifestations of HAE because the literature is currently limited to case reports and series. We sought to characterize clinical features related to HAE genital attacks.

Hereditary angioedema: approaches to diagnosis and treatment, analysis of a clinical family case

Hereditary angioedema belongs to the group of rare, orphan, genetically determined defects that represent a significant medical and social problem due to the pronounced impact on the quality of life and potential mortality, as well as the emerging difficulties associated with timely diagnosis and the appointment of adequate treatment. The article presents data on the modern classification of hereditary angioedema, clinical manifestations of the disease, approaches to diagnosis verification and treatment principles. Therapy of hereditary angioedema is determined by the need for effective relief of acute attacks of the disease, prevention of edema before medical interventions, and, if indicated, long-term prophylaxis. The article discusses a differentiated approach to the treatment of hereditary angioedema, characterizes various options for therapeutic interventions. In a clinical case, the history of several generations of a family with manifestations of hereditary angioedema is described. A modern approach to the diagnosis of the disease based on detailed history, clinical symptoms, and laboratory research results has been demonstrated. The analysis of the effectiveness of treatment was carried out and the high efficiency of pathogenetic therapy of hereditary angioedema with human C1-esterase inhibitor was shown.

P175 Non-surgical management of intussusception in a pediatric patient with hereditary angioedema

Intussusception is a known manifestation of Hereditary Angioedema however, only a handful of cases have been treated conservatively and most, if not all, have been adult patients. To our knowledge, this is the first case of a pediatric patient treated conservatively without undergoing a surgical procedure.

Prevalence and Clinical Manifestations of Hereditary Angioedema in Untested Close and Distant Blood Relatives of Hereditary Angioedema Index Patients in a City, Turkey

Prevalence and Clinical Manifestations of Hereditary Angioedema in Untested Close and Distant Blood Relatives of Hereditary Angioedema Index Patients in a City, Turkey

A 21-year-old male with throat swelling and difficulty swallowing

Background: Angioedema is an extravasation of fluid into cutaneous, subcutaneous, or mucosal tissues. The condition has awide range of clinical presentations and possible etiologies. Isolated uvular angioedema, also termed Quincke’s disease, maybe idiopathic or a manifestation of hereditary angioedema, a medication reaction, food allergy, infection, trauma, inhalation, orgeneral anesthesia. Case description: We report on a patient who presented to the emergency department with throat swelling and difficultyswallowing. The patient was admitted due to concern for epiglottitis and airway compromise. The patient quickly improvedafter receiving doses of an oral antihistamine and an inhaled corticosteroid and was discharged the next day. On assessment foretiology he had a very unlikely cause for his swelling. Clinical implications: Angioedema of the oropharyngeal area is concerning for the development of airway compromise and mayrequire laryngoscopy. A thorough history, physical exam, and laboratory investigation differentiate angioedema from other causesof airway edema.

Nanofiltered C1 Esterase Inhibitor for Treatment of Laryngeal Attacks in Patients with Hereditary Angioedema

Laryngeal edema is a life-threatening manifestation of hereditary angioedema (HAE), an autosomal-dominant disorder caused by quantitative or functional C1 esterase inhibitor (C1 INH) deficiency. The preparation of nanofiltered C1 INH (C1 INH-nf) used in this study is indicated for routine prophylaxis against angioedema attacks in the United States and for treatment, preprocedure prevention, and routine prevention of HAE in Europe. The objective of this analysis was to evaluate the effectiveness and tolerability of C1 INH-nf when used for the treatment of laryngeal attacks. A post hoc analysis of an open-label treatment study evaluated the effectiveness of C1 INH-nf in the treatment of laryngeal attacks in patients with HAE. Outcomes included unequivocal or clinical relief rates and time from treatment to onset of relief. Data were compiled from this and three other studies for post hoc dosing and tolerability analyses. In all studies, C1 INH-nf at 1000 U was administered i.v., with a second 1000-U dose given after 60 minutes if indicated. In the open-label treatment study, 60 (50/84) and 77% (65/84) of attacks achieved unequivocal relief within 1 and 4 hours, respectively, after treatment. Time to unequivocal relief was shorter with prompt treatment. When C1 INH-nf was administered within 4 hours of symptom onset, clinical relief was achieved in 94% (45/48) of attacks within 4 hours after treatment. Of 265 attacks from the four studies, 62% received two 1000-U doses of C1 INH-nf. No serious adverse events occurring within 7 days after treatment were attributed to study drug, and only one patient required intubation after receiving C1 INH-nf (14.5 hours after symptom onset). This analysis supports that C1 INH-nf is an effective and well-tolerated therapy for laryngeal angioedema attacks.

Abdominal symptoms of hereditary angioedema and early weaning

Hereditary angioedema (HAE), a condition caused by deficiency of C1 inhibitor that results in acute and painful swelling in locations that can include the face, neck, abdomen, extremities and genitals, is a potentially life-threatening disorder. Many factors may contribute to phenotype development. A case report prompted us to investigate the potential influence of early weaning on HAE gastrointestinal symptoms. Retrospective analysis was performed based on clinical data from 89 patients registered with our HAE center, including duration of breast-feeding, timing of cow's milk introduction, age at symptom onset and localization of the attacks. We did not find any relationship between these factors. Although breastfeeding is known to confer protection against numerous diseases, it showed no efficacy against the manifestations of HAE in our patient population.

Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: Importance for the differential diagnosis of joint swelling

We describe a patient with hereditary angioedema (HAE), showing recurrent edema around the peripheral joints. Her symptoms began at the age of 18 with hand swelling distal to the wrist joints. Until she was referred to our hospital 3 years after her initial symptoms, she was still undiagnosed, although she was suspected of having rheumatoid arthritis. Laboratory examination showed reduced levels of CH50 and C4 with normal C3 levels. The C1 inhibitor (C1-INH) was decreased to 5 mg/ml, with remarkably reduced activity. Although these findings were compatible with a diagnosis of HAE, there were no episodes of skin edema in her family. To establish the diagnosis, we carried out DNA analysis of the C1-INH gene, which revealed a newly identified de novo mutation of G to A at nucleotide 16869 in exon 8. As described in this patient, localized edema around the peripheral joints may be the only manifestation of HAE. HAE should therefore be taken into consideration for the differential diagnosis of joint swelling.