scholarly journals Successful long-term prophylaxis of hereditary pregnancy-associated angioedema with plasma-derived C1-inhibitor concentrate: a case report

2021 ◽  
Vol 22 (6) ◽  
pp. 1215-1220
Author(s):  
D. V. Demina ◽  
A. O. Makeeva ◽  
L. M. Kudelya ◽  
E. V. Novikova ◽  
V. A. Kozlov
Keyword(s):  
Pregnant Women ◽  
Vascular Permeability ◽  
Fresh Frozen Plasma ◽  
Laryngeal Edema ◽  
Type I ◽  
Hormonal Changes ◽  
Cesarean Section Delivery ◽  
C1 Esterase Inhibitor ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) is a rare autosomal dominant disease caused by quantitative (type I) or functional (type II) deficiency in C1 esterase inhibitor (C1-INH). It may be caused by new mutations in up to 20% of patients. Prevalence of HAE is uncertain but is estimated to be approximately 1 case per 50,000 persons, without known differences among ethnic groups. C1-INH protein is a serine protease inhibitor that is important in controlling vascular permeability by acting on the initial phase of the complement activation, blood clotting, and fibrinolysis. Deficiency in functional C1-INH protein permits release of bradykinin, a key mediator of vascular permeability. Symptoms typically begin since childhood, worsening at puberty, and persist throughout the life, with unpredictable clinical course. The patients with HAE suffer from recurrent, acute attacks of edema that can affect any body sites, causing potentially life-threatening disorders (laryngeal edema). Results of clinical studies show that minor traumas, stress and medical interventions may be frequent precipitants of swelling episodes, but many attacks occur without an apparent cause. Pregnancy-associated hormonal changes may affect the course of C1-INH angioedema attacks by worsening, improving, or having no impact at all, but a higher percentage of pregnant women experienced an increase in C1-INH-HAE attack rates. Therapeutic options for patients with HAE are limited during pregnancy. C1-INH concentrate is recommended as the first-line therapy for pregnant women with HAE for on-demand treatment, shortterm and long-term prophylaxis, due to its safety and efficiency. Other therapies, e.g., treatment with fresh frozen plasma, androgens, icatibant, antifibrinolytics, may show variable efficacy, or cause undesirable side effects. The case below illustrates the successful treatment of HAE in a pregnant woman with C1 esterase inhibitor (C1-INH) concentrate. This patient had a very mild course of HAE during her lifetime and didn’t get any treatment. During pregnancy, she experienced a significant increase in the frequency of attacks, and the decision was made to start replacement therapy with a plasma-derived, double virus-inactivated C1-INH concentrate as a long-term prophylaxis throughout the full term of her pregnancy, before, during and after the cesarean section delivery.

scholarly journals Successful use of lanadelumab in an elderly patient with type II hereditary angioedema

2021 ◽  
Author(s):  
Tasha S. Hellu ◽  
Samuel L. Weiss ◽  
Derek M. Smith
Keyword(s):  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Poor Quality ◽  
Type I ◽  
Type Ii ◽  
C1 Esterase Inhibitor ◽  
Submucosal Edema ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurring episodes of subcutaneous and/or submucosal edema without urticaria due to an excess of bradykinin (1, 2). HAE is classified into 2 main types (1). Type I HAE is caused by deficiency of C1 esterase inhibitor, accounting for 85% of cases (1). Type II HAE occurs in only 15% of cases and is marked by normal to elevated levels of C1 esterase inhibitor but with a reduction in activity (1). An angioedema attack can range in severity depending on the location and degree of edema (2). Furthermore, patients with HAE are often diagnosed with anxiety and depression secondary to their poor quality of life (3). Thus, long-term prophylaxis of attacks can be crucial to reduce the physical and psychological implications. For long-term prophylaxis, lanadelumab, a subcutaneously delivered monoclonal antibody inhibitor of plasma kallikrein, has been proven to decrease the frequency of HAE attacks without significant side effects (4). However, data is limited, specifically regarding patients with type II HAE and patients >/= 65 years (4).

scholarly journals Hereditary angioedema caused by C1-esterase inhibitor deficiency: a case report with literature-based analysis

2019 ◽  
Vol 8 (2) ◽  
pp. 741
Author(s):  
Sufia Athar ◽  
Noureddine Korichi ◽  
Yousra Shehada Siam
Keyword(s):  
Case Report ◽  
Hereditary Angioedema ◽  
Fresh Frozen Plasma ◽  
Pregnancy And Childbirth ◽  
C1 Esterase Inhibitor ◽  
Close Observation ◽  
Fresh Frozen ◽  
Dominant Disease ◽  
Frozen Plasma ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease caused by a mutation in the C1-inhibitor gene. It is a rare disease that is often worsened during pregnancy and childbirth. HAE, though uncommon but if untreated it may lead to maternal death.  The case report presents the successful management of a 24 years old, G2P1, with hereditary angioedema caused by C1-esterase inhibitor deficiency. This patient was managed with a multidisciplinary approach by an obstetrician, an immunologist, an anaesthesiologist and a pediatrician. She had an uneventful antenatal period, labor was induced. She had precipitate delivery and soon after delivery had a flare up of the disease. It was successfully managed with fresh frozen plasma and close observation. 

Nanofiltered C1 esterase inhibitor (human) for hereditary angioedema attacks in pregnant women

2013 ◽  
Vol 34 (2) ◽  
pp. 162-169 ◽  
Author(s):  
James W. Baker ◽  
Timothy J. Craig ◽  
Marc A. Riedl ◽  
Aleena Banerji ◽  
David Fitts ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Hereditary Angioedema ◽  
C1 Esterase Inhibitor ◽  
Esterase Inhibitor

Waldenstrom's Microglobulinemia Presenting with Recurrent Angioedema Secondary to C1q Esterase Inhibitor (C1 INH) Deficiency

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 5009-5009 ◽  
Author(s):  
Nneamaka N Enwemnwa ◽  
Abhinav B. Chandra ◽  
Porselvi Chockalingam ◽  
Jack Burton
Keyword(s):  
B Cell ◽  
Total Protein ◽  
Laryngeal Edema ◽  
Low Grade ◽  
Normal Range ◽  
C1 Esterase Inhibitor ◽  
Life Threatening ◽  
History Of ◽  
C1inh Deficiency ◽  
Esterase Inhibitor

Abstract Abstract 5009 Description: A 57 year-old Bangladeshi man presented to the emergency room with a 4-day history of shortness of breath, productive cough and sensation of choking. He had a history of recurrent dyspnea, chest pain and chronic bilateral pedal edema. He had recent admissions for similar complaints at different hospitals where he was diagnosed with low grade non-Hodgkin lymphoma not requiring treatment and was discharged with bronchodilators and anti-tussives. He was symptom-free between episodes. There was no fever, night sweats or weight loss and there was no history of asthma. Physical exam revealed moderate dyspnea with some stridor, cervical lymphadenopathy with many firm and mobile small lymph nodes. There was no hepato-splenomegaly, urticaria or rashes. Results of routine blood tests including CBC and C-reactive protein were normal. Chest X-ray showed mild pulmonary congestion and CT images of the chest and abdomen showed multiple lymph nodes of about 1–1.5 cm in size. X-rays of the hands showed multiple small lytic lesions. Laryngoscopy showed laryngeal edema. Bone marrow biopsy showed a few paratrabecular areas with increased numbers of small lymphocytes and a lymph node biopsy revealed low grade B-cell lymphoma with plasmacytic differentiation, which was positive for CD19, 20, 22, 38, and CD44. Serum viscosity was 1.6. Immunological studies showed a low C4 at 4 mg/dl (normal range 10–40 mg/dl), low C1q at <3.6 (normal range 5–8.6), C1 esterase inhibitor low-normal at 16 (normal range 11–26). Serum immunoglobulins showed IgM gammopathy with low IgA and normal IgG levels. Beta-2 microglubulin was also elevated at 4.93 mg/dl (normal range < 2.51). Serum protein electrophoresis showed a monoclonal IgM spike measuring 1.5 g/dl with immunofixation positive for a IgM kappa band. Total protein, alpha2- and beta-globulins were elevated and urine electrophoresis was positive for kappa light chains. A diagnosis of Waldenström's macroglobulinemia with angioneurotic edema was made. He was treated with 4 cycles of bortezomib (Velcade®), dexamethasone and rituximab. The patient's angioedema and respiratory symptoms improved dramatically. Follow-up serum electrophoresis showed a very good response to treatment, with a major decrease in total protein and the M-spike. Complement levels returned to normal. Discussion: C1 is the first protein of the classical and kinin pathways which is an arm of the innate immune system. Triggering factors activate the complement cascade and lead to activation of C1 which in turn cleaves C2, the product of which is an inflammatory mediator responsible for angioedema by causing increased capillary permeability and extravasations. In C1INH deficiency, this process occurs uninhibited, triggered by minimal stimulation. C1q esterase inhibitor deficiency is a rare manifestation of Waldenström's macroglobulinemia with very few reported cases in literature. Symptoms are non-allergic, non-pruritic and clinical presentation depends on parts of the anatomy affected and may be as mild as inconvenient skin blotching up to life-threatening laryngeal edema or shock. They vary widely, often self limiting and recurrent. Angioedema, acquired or inherited, is complement mediated, characterized by low levels of complement proteins during attacks. C1INH deficiency can be acquired due to increased consumption or/and inactivation by circulating autoantibodies or secondary to lymphoproliferative diseases that lead to increased catabolism. These are often associated with B-cell disorders but may be associated with other disease patterns. Symptomatology is variable and periods of remission and recurrence lead to easy misdiagnosis and incomplete treatment. Proper diagnosis is dependent on awareness and knowledge of the various clinical presentations, adequate and focused use of laboratory analyses and immunopathology studies. The key to treatment is first therapy of the acute stage (in our patient with the use of intravenous steroids) and then more specific treatment of the underlying disease entity (in our patient with bortezomib, dexamethasone and rituximab). Conclusion: Waldenstrom's macroglobulinemia presenting with angioedema is rare, often misdiagnosed and acquired C1 esterase inhibitor deficiency should be at least ruled out, as presentation is varied and could be potentially life-threatening. Disclosures: No relevant conflicts of interest to declare.

Does long-term treatment alter the pharmacokinetics of human C1-esterase-inhibitor (C1-INH) in HAE patients?

2008 ◽  
Vol 45 (16) ◽  
pp. 4156-4157
Author(s):  
Inmaculada Martinez-Saguer ◽  
Eva Rusicke ◽  
Emel Aygören-Pürsün ◽  
Thomas Klingebiel ◽  
Wolfhart Kreuz
Keyword(s):  
Term Treatment ◽  
C1 Esterase Inhibitor ◽  
Long Term Treatment ◽  
Esterase Inhibitor

scholarly journals Hereditary angioedema: experience of substitution therapy with a C1 esterase inhibitor in the Sverdlovsk region

2019 ◽  
Vol 16 (3) ◽  
pp. 61-66
Author(s):  
E K Beltyukov ◽  
S S Vedenskaya ◽  
I S Skorokhodov ◽  
V V Naumova ◽  
M V Beltyukova ◽  
...  
Keyword(s):  
Side Effects ◽  
Pregnant Women ◽  
Receptor Antagonist ◽  
Rare Disease ◽  
Hereditary Angioedema ◽  
Substitution Therapy ◽  
National Guidelines ◽  
Ministry Of Health ◽  
C1 Esterase Inhibitor ◽  
Esterase Inhibitor

Hereditary angioedema (HAO) is rare disease, however, it's lifethreatening localization can be fatal. Antifibrinolytics and attenuated androgens used for the prevention of HAO attacks have side effects, which limit their use. The bradykinin B2 receptor antagonist, Icatybant is an effective but shortacting dmedication. The human C1 esterase inhibitor (berinert) is safe and effective for the prevention and relief of angioedema of lifethreatening localization, including in pregnant women. The management of patients with HAO is regulated by national guidelines, and the use of a human C1 esterase inhibitor is recommended by instruction of the drug and by the Ministry of Health of the Sverdlovsk region. Patients with HAO should be provided with patient’s passport and fill a diary of symptoms monitoring of HAO.

scholarly journals Safety of a C1 Esterase Inhibitor Concentrate in Pregnant Women with Hereditary Angioedema: Findings from the International Berinert Patient Registry

2016 ◽  
Vol 137 (2) ◽  
pp. AB243 ◽  
Author(s):  
James A. Fox ◽  
Inmaculada Martinez-Saguer ◽  
Arthur B. Vegh ◽  
Walter A. Wuillemin ◽  
Jonathan M. Edelman ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Hereditary Angioedema ◽  
Patient Registry ◽  
C1 Esterase Inhibitor ◽  
Esterase Inhibitor

Successful Long-Term Prophylactic Treatment With Subcutaneous C1 Esterase Inhibitor in a Patient With Hereditary Angioedema

2019 ◽  
Vol 33 (6) ◽  
pp. 907-911
Author(s):  
Janina Hahn ◽  
Melanie Nordmann-Kleiner ◽  
Susanne Trainotti ◽  
Thomas K. Hoffmann ◽  
Jens Greve
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Prophylactic Treatment ◽  
Upper Airway ◽  
Venous Access ◽  
Current Standard ◽  
C1 Esterase Inhibitor ◽  
Esterase Inhibitor

Background: Hereditary angioedema (HAE) patients suffer from recurrent swellings. Current standard therapy consists of C1 esterase inhibitor (C1-INH) and bradykinin receptor B2 antagonists. Severe courses require prophylactic treatment. For such patients, it has been demonstrated that the intravenous (IV) administration of C1-INH [C1-INH(IV)] is safe and effective. A new prophylactic option is subcutaneous (SC) treatment with C1-INH. Methods and Case: We present the case of an HAE patient placed on prophylactic C1-INH(IV) therapy due to frequent attacks when managed with on-demand therapy. An implanted port allowed the periodical and safe application of medication until the device was explanted due to an infection. Due to the poor venous access, repeated IV application failed. Therefore, we began a SC treatment with 1500 IU C1-INH [C1-INH(SC)] as long-term prophylaxis and analyzed the clinical course over 16 months. Results: Under the SC prophylaxis, the number of attacks were reduced to 1/month in comparison to 4.33/month with no prophylactic treatment and 1.83/month with C1-INH(IV). No severe attacks and no attack within the upper airway occurred over the 16 months of C1-INH(SC) treatment. As a result, quality of life improved, as measured by the Angioedema quality of life questionaire (AE-QoL). Conclusion: Self-administered SC prophylactic use of C1-INH over a period of 16 months seems to be a well tolerated and efficient. The patient’s quality of life improved, and by learning self-application, the patient gained independence.

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