scholarly journals Hereditary Angio-Oedema for Dermatologists

Dermatology ◽  
2019 ◽  
Vol 235 (4) ◽  
pp. 263-275 ◽  
Author(s):  
Anette Bygum
Keyword(s):  
Molecular Genetic ◽  
Upper Airway ◽  
Orphan Drugs ◽  
Prophylactic Therapy ◽  
Molecular Genetic Testing ◽  
C1 Inhibitor ◽  
Surgical Interventions ◽  
Increased Risk ◽  
Life Threatening

Among angio-oedema patients, hereditary angio-oedema (HAE) should not be overlooked. Besides skin swellings, these patients might have very painful abdominal attacks and potentially life-threatening angio-oedema of the upper airway. They will not respond to traditional anti-allergic therapy with antihistamines, corticosteroids, and adrenaline, and instead need specific drugs targeting the kallikrein-kinin pathway. Classically, patients with HAE have a quantitative or qualitative deficiency of the C1 inhibitor (C1INH) due to different mutations in SERPING1, although a new subtype with normal C1INH has been recognised more recently. This latter variant is diagnosed based on clinical features, family history, or molecular genetic testing for mutations in F12, ANGPT1,or PLG.The diagnosis of HAE is often delayed due to a general unfamiliarity with this orphan disease. However, undiagnosed patients are at an increased risk of unnecessary surgical interventions or life-threatening laryngeal swellings. Within the last decade, new and effective therapies have been developed and launched for acute and prophylactic therapy. Even more drugs are under evaluation in clinical trials. It is therefore of utmost importance that patients with HAE are diagnosed as soon as possible and offered relevant therapy with orphan drugs to reduce morbidity, prevent mortality, and improve quality of life.

Etiology and predictors of cluster attacks of hereditary angioedema that recur despite pharmaceutical treatment

2021 ◽  
Vol 42 (4) ◽  
pp. 317-324
Author(s):  
Felix. A. Johnson ◽  
Magdalena Wirth ◽  
Zhaojun Zhu ◽  
Janina Hahn ◽  
Jens Greve ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Upper Airway ◽  
Poor Quality ◽  
Prophylactic Therapy ◽  
On Demand ◽  
C1 Esterase Inhibitor ◽  
Physical Stimuli ◽  
Inhibitor Treatment ◽  
Esterase Inhibitor

Introduction: Hereditary angioedema (HAE) is a disease that leads to recurrent swelling of the skin and mucous membranes, including the upper airway tract. Apart from being deadly, these attacks can be debilitating, which leads to a poor quality of life in patients. Clinicians are occasionally confronted with patients who have recurrent attacks despite treatment with C1 esterase inhibitor concentrate or β2-receptor antagonists. The goal of this study was to investigate repeated attacks that occur 48 hours to 7 days (“cluster attacks”) after treatment, to determine why they occur and the factors that may be associated with them, and thus to prevent their occurrence. Methods: We conducted a multicenter mixed retrospective-prospective study with data acquired from all documented attacks in our patients with collective (n = 132) between 2015 and 2018. Results: Eighty-five percent (n = 132) of our total patient collective (N = 156) agreed to participate in the study. Nine percent of these patients (n = 12) had cluster attacks, with a total of 48 cluster attacks. The data procured from the patients were mixed retrospective‐prospective. Approximately 72% of all the cluster attacks were caused by exogenous stimuli (41% due to psychological stress, 29% due to physical stimuli, and 2% due to menstruation). Cluster attacks occurred in 7% of the patients who received prophylactic therapy in comparison with 12.5% of patients who received on-demand therapy. Cluster attacks comprised 48.4% of all the attacks that patients with cluster-attacks (n= 9) experienced. In addition, the patients who were underdosing their C1 esterase inhibitor treatment had cluster attacks more often. A lower “time to repeated attack” was seen in the patients who received on-demand therapy compared with those who received prophylactic therapy. Discussion: The percentage of the patients who had attacks as a result of exogenous triggers was higher in the cluster-attack group (70.5%) compared with the general HAE population (30‐42%). Repeated attacks, therefore, were strongly associated with external triggers. The patients who received prophylactic treatment and who experienced cluster attacks were highly likely to have been underdosing, which may explain the repeated attacks despite treatment. In the patients prone to cluster attacks, prophylaxis should be considered.

scholarly journals Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

2020 ◽  
Vol 10 (3) ◽  
pp. 105
Author(s):  
Megan Boothe ◽  
Robert Morris ◽  
Nathaniel Robin
Keyword(s):  
Molecular Genetic ◽  
Clinical Manifestations ◽  
High Rate ◽  
Stickler Syndrome ◽  
Molecular Genetic Testing ◽  
Ocular Complications ◽  
Increased Risk ◽  
Auditory Systems ◽  
Detection And Diagnosis ◽  
Early Detection And Diagnosis

Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes for these patients. Systemic findings are also common, with craniofacial, skeletal, and auditory systems often involved. SS is genotypically and phenotypically heterogenous, which can make recognizing and correctly diagnosing individuals difficult. Molecular genetic testing should be considered in all individuals with suspected SS, as diagnosis not only assists in treatment and management of the patient but may also help identify other at-risk family members. Here we review common clinical manifestation of SS and genetic tests frequently ordered as part of the SS evaluation.

scholarly journals Concurrent Negative-Pressure Pulmonary Edema (NPPE) and Takotsubo Syndrome (TTS) after Upper Airway Obstruction

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Evan Harmon ◽  
Sebastian Estrada ◽  
Ryan J. Koene ◽  
Sula Mazimba ◽  
Younghoon Kwon
Keyword(s):  
Airway Obstruction ◽  
Pulmonary Edema ◽  
Negative Pressure ◽  
Upper Airway ◽  
Upper Airway Obstruction ◽  
Takotsubo Syndrome ◽  
Negative Pressure Pulmonary Edema ◽  
Acute Airway Obstruction ◽  
Increased Risk ◽  
Life Threatening

Upper airway obstruction is a potentially life-threatening emergency often encountered in the acute care, perioperative, and critical care settings. One important complication of acute obstruction is negative-pressure pulmonary edema (NPPE). We describe two cases of acute upper airway obstruction, both of which resulted in flash pulmonary edema complicated by acute hypoxic respiratory failure. Though NPPE was suspected, these patients were also found to have Takotsubo syndrome (TTS). Neither patient had prior cardiac disease, and both subsequently had a negative ischemic workup. Because TTS is a condition triggered by hyperadrenergic states, the acute airway obstruction alone or in combination with NPPE was the likely explanation for TTS in each case. These cases highlight the importance of also considering cardiogenic causes of pulmonary edema in the setting of upper airway obstruction, which we suspect generates a profound catecholamine surge and places patients at increased risk of TTS development.

scholarly journals New approach in prophylactic treatment of a challenged HAE patient

2019 ◽  
Vol 12 (3) ◽  
pp. e227061 ◽  
Author(s):  
Oda Jordal ◽  
Anette Bygum
Keyword(s):  
Quality Of Life ◽  
Severe Pain ◽  
Prophylactic Treatment ◽  
C1 Inhibitor ◽  
New Approach ◽  
Off Label ◽  
Pain Affect ◽  
The Face ◽  
Life Threatening

Hereditary angioedema (HAE) is a relapsing swelling disorder which can cause severe pain, affect quality of life and potentially be life threatening with involvement of the airways. We present a 34-year-old immigrant who suffered from very frequent and severe HAE attacks. The attacks often involved the face, mouth and the airways. She often went to the hospital for treatment, where the language barrier made the situation complicated. The traditional therapy for HAE was not successful treating this patient. In June 2017, off-label treatment with prophylactic subcutaneous complement C1-inhibitor concentrate was initiated. The treatment was very successful and the patient has not been hospitalised since. Treatment for HAE is nowadays under investigation, and many drugs are under development. Especially, medication which works prophylactically and is administered orally or subcutaneously is in the horizon.

scholarly journals Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance

2019 ◽  
Vol 12 (9) ◽  
pp. e231122
Author(s):  
Eva Rye Rasmussen ◽  
Kasper Aanæs ◽  
Marianne Antonius Jakobsen ◽  
Anette Bygum
Keyword(s):  
Abdominal Pain ◽  
Upper Airway ◽  
Allergic Reactions ◽  
C1 Inhibitor ◽  
C1 Esterase Inhibitor ◽  
Wide Range ◽  
Unknown Significance ◽  
Life Threatening ◽  
Vasoactive Mediator ◽  
Esterase Inhibitor

Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor normally decreases BK production, so a reduced function hereof causes increased levels. The diagnosis of hereditary or acquired AE can be difficult due to similarities to allergic reactions (swelling, abdominal pain, rash). We describe a 35-year-old man presenting with upper-airway AE progressing rapidly and promptly required cricothyroidotomy. Complement and autoantibody screening together with sequencing of SERPING1 were performed and gave the diagnosis of acquired complement C1 esterase inhibitor deficiency. The patient is unusual to have this disease before the age of 40 years. No associated comorbidities were found. It is important to know that antiallergic medication is not effective in BK-mediated AE.

scholarly journals Complex clinical case: hereditary angioedema

2021 ◽  
Vol 5 (1) ◽  
pp. 50-53
Author(s):  
E.A. Sobko ◽  
◽  
I.V. Demko ◽  
I.A. Solovieva ◽  
A.Yu. Kraposhina ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Clinical Case ◽  
Psychological Symptoms ◽  
Disease Onset ◽  
Final Diagnosis ◽  
C1 Inhibitor ◽  
Surgical Interventions ◽  
Life Threatening ◽  
Promising Treatment ◽  
Russian Medical

Nowadays, isolated angioedema is one of the most complex and urgent problems of modern allergology and immunology. Hereditary angioedema (HA) refers to orphan and life-threatening diseases associated with a deficiency or decrease in C1-inhibitor function and is characterized by recurrent edema in deep dermis of various localization. A doctor of any specialty can encounter this nosology, which obliges all medical officers to have a general overview concerning HA. Late diagnosis is fraught with unnecessary surgical interventions, psychological symptoms, opiate addiction, or life-threatening laryngeal angioedema. To date, the final diagnosis of HA, and, consequently, adequate drug therapy, is delayed by an average of 8.5 years from disease onset. Sudden edema in the vital organs is a source of constant anxiety, a cause of disability, and sometimes fatal outcomes. The article presents a clinical case and discusses therapy principles, existing possibilities of promising treatment and recommendations for further management. KEYWORDS: hereditary angioedema, recurrent edema, orphan diseases, bradykinin; C1-inhibitor; complement system. FOR CITATION: Sobko E.A., Demko I.V., Solovieva I.A. et al. Complex clinical case: hereditary angioedema. Russian Medical Inquiry. 2021;5(1):50–53. DOI: 10.32364/2587-6821-2021-5-1-50-53.

Nebulized Adrenaline in the Postoperative Management of Brachycephalic Obstructive Airway Syndrome in a Pug

2017 ◽  
Vol 53 (2) ◽  
pp. 107-110 ◽  
Author(s):  
Jenny Ellis ◽  
Elizabeth Ann Leece
Keyword(s):  
Quality Of Life ◽  
Airway Obstruction ◽  
Surgical Procedures ◽  
Postoperative Period ◽  
Upper Airway ◽  
Postoperative Management ◽  
Laryngeal Edema ◽  
Life Threatening ◽  
Tracheostomy Tubes

ABSTRACT Brachycephalic obstructive airway syndrome is a common problem in certain breeds, and may necessitate surgical procedures, such as rhinoplasty, palatoplasty, laryngeal sacculectomy, and/or arytenoid laryngoplasty, to improve the quality of life. However, laryngeal edema may necessitate the use of temporary tracheostomy tubes postoperatively to maintain a patent airway. This case demonstrates that administration of nebulized adrenaline in the immediate postoperative period where upper airway obstruction is life threatening can be used to reduce edema, therefore avoiding the need for tracheostomy.

scholarly journals A Comparison of Treatment Options for Carpal Boss: A Critically Appraised Topic

2021 ◽  
Vol 7 (2) ◽  
Author(s):  
Megan Collins ◽  
Matthew Rivera
Keyword(s):  
Conservative Treatment ◽  
Range Of Motion ◽  
Case Studies ◽  
Conservative Management ◽  
Surgical Intervention ◽  
Case Reports ◽  
Treatment Options ◽  
Surgical Interventions ◽  
Increased Risk

Context: Carpal bossing is a bony growth or mass that typically occurs at the 2nd or 3rd carpometacarpal joint. Carpal bossing is often overlooked placing the patient at an increased risk for pain or injury, such as osteoarthritis or inflammatory joint disease if left untreated. Individuals such as combat sport athletes who experience repetitive trauma to this area are at a high risk to develop carpal bossing. The literature suggests conservative or surgical interventions to manage symptoms. The goal of this systematic review is to synthesize the current literature for clinical knowledge and intervention outcomes for carpal bossing. Methods: A systematic search of the literature was performed across 3 electronic databases (Science Direct, PubMed, and EBSCOhost) to identify articles that investigated the effects of surgical intervention or conservative management for carpal bossing. A combination of the keywords and Boolean operators (Carpal Bossing, Carpal Boss, Surgical Intervention, Wedge Resection, Excision, Conservative Treatment, and Intervention) related to the research question were used. The search was restricted to full text, human studies (including cadaveric studies) research, and manuscripts available in English. Articles were included if they examined the effect of either conservative or surgical interventions for the treatment of carpal bossing. Articles were excluded from the review if the study did not examine carpal bossing treatment options or did not include pain, range of motion, strength, or functional measures of the hand and wrist. Two independent reviewers used the Joanna Briggs Institute Checklist for Case Reports and the Checklist for Case Studies to appraise the quality of the articles. A score of 50% was used to remove low-quality studies. The Strength of Recommendation Taxonomy (SORT) method was used to grade the evidence for the articles included. Results: After the initial search, 10 articles met the inclusion criteria, while 3 were eliminated due to low quality appraisal scores. The average scores for case reports and case studies were 5.5/7 or 7.5/9 respectively. There was a total of 58 participants across the 7 studies. Generally speaking, conservative treatment reduced average daily pain and patients were able to return to full participation within 2 weeks. Conversely, patients undergoing surgical intervention experienced episodic pain, including over the surgical incision, typically averaging 2/10 on the visual analog scale. Findings from the surgical intervention showed inconsistent measurements for wrist/hand strength and range of motion. There is level C evidence on the treatment for carpal bossing. Conclusion: The limited evidence suggests conservative management may reduce pain and improve clinical outcomes. However, clinicians should consider the level C evidence with skepticism as the quality of evidence on this topic is low. Further investigations should be performed with more rigor.

Individual Replacement Therapy (IRT) with a Pasteurized C1-Inhibitor Concentrate Compared to Prophylaxis with Danazol in Patients with Hereditary Angioedema (HAE) - a Prospective Study.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 1028-1028 ◽  
Author(s):  
Wolfhart Kreuz ◽  
Inmarculada Martinez-Saguer ◽  
Emel Aygoeren-Puersuen ◽  
Eva Rusicke ◽  
Thomas Klingebiel
Keyword(s):  
Quality Of Life ◽  
Side Effects ◽  
Replacement Therapy ◽  
Hereditary Angioedema ◽  
Parvovirus B19 ◽  
Laryngeal Edema ◽  
C1 Inhibitor ◽  
Life Threatening

Abstract Attenuated androgens like danazol are the current treatment of choice for long-term prophylaxis in patients with hereditary angioedema (HAE), who may experience life-threatening acute attacks. Unfortunately, this group of drugs bears the risk of severe side effects (e.g. depression, weight gain, hirsutism, transaminase elevations, liver adenoma and carcinoma, headaches, hypertension, menstrual abnormalities). Objectives: We therefore explored the option to administer a pasteurized, plasma-derived C1-Inhibitor concentrate (C1-INH, Berinert®P) for individual replacement therapy (IRT) in patients with HAE in whom danazol induced severe side effects, was not effective or was contraindicated (e.g. children, pregnant women). Methods: Prospective, observational, intra-individual cross over study, comparing efficacy, safety and quality of life of danazol (prophylaxis) vs. C1-INH (IRT) in 23 patients suffering from severe HAE. Results: Mean annual attack frequency decreased from 48.8 ± 37.1 (danazol) to 8.1 ± 22.1 (C1-INH); p<0.001. All patients who received pasteurized C1-INH were free of life threatening attacks (laryngeal edema) or adverse events, which did occur under long-term prophylaxis with danazol (Fig.). In addition, all quality of life parameters improved significantly; p<0.001. During the entire 20-year observation period with C1-INH in all patients there was no transmission of HIV type 1/2, hepatitis A-, B-, C-, G-viruses, or parvovirus B19. Conclusions: Compared to danazol, IRT with pasteurized C1-INH in patients with severe HAE significantly reduces the frequency of HAE attacks, especially of life-threatening attacks, and significantly improves the quality of life.

Distraction Osteogenesis in the Treatment of Craniofacial Anomalies: Applications and Outcomes

2020 ◽  
Vol 5 (6) ◽  
pp. 1469-1481 ◽  
Author(s):  
Joseph A. Napoli ◽  
Carrie E. Zimmerman ◽  
Linda D. Vallino
Keyword(s):  
Distraction Osteogenesis ◽  
Bone Growth ◽  
Upper Airway ◽  
Craniofacial Anomalies ◽  
Craniofacial Skeleton ◽  
Facial Skeleton ◽  
Psychosocial Impairment ◽  
And Function ◽  
Correct Structure

Purpose Craniofacial anomalies (CFA) often result in growth abnormalities of the facial skeleton adversely affecting function and appearance. The functional problems caused by the structural anomalies include upper airway obstruction, speech abnormalities, feeding difficulty, hearing deficits, dental/occlusal defects, and cognitive and psychosocial impairment. Managing disorders of the craniofacial skeleton has been improved by the technique known as distraction osteogenesis (DO). In DO, new bone growth is stimulated allowing bones to be lengthened without need for bone graft. The purpose of this clinical focus article is to describe the technique and clinical applications and outcomes of DO in CFA. Conclusion Distraction can be applied to various regions of the craniofacial skeleton to correct structure and function. The benefits of this procedure include improved airway, feeding, occlusion, speech, and appearance, resulting in a better quality of life for patients with CFA.

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