scholarly journals Clinical Review of Hereditary Angioedema: Diagnosis and Management

2021 ◽  
Vol 8 (8) ◽  
Author(s):  
Weis M ◽  
Keyword(s):  
Family History ◽  
Hereditary Angioedema ◽  
Emergency Department Visits ◽  
The Body ◽  
Medical Procedures ◽  
Laboratory Studies ◽  
Patients At Risk ◽  
History Of ◽  
Esterase Inhibitor ◽  
Risk For Disability

Hereditary Angioedema (HAE) is caused by a deficiency in C1 esterase inhibitor and is characterized by sudden attacks of edema associated with discomfort and pain. The disease places patients at risk for disability and death if left untreated. Symptom severity and frequency can be extremely variable even among affected members of the same family. Attacks are not associated with inflammation or allergy, with most occurring secondary to trauma or stress. Swelling can affect any part of the body or multiple sites at once. Commonly affected areas include the extremities, genitalia, trunk, gastrointestinal tract, face, and larynx. Swelling typically worsens over 24 to 36 hours and resolves within 48 hours in less severe cases. Attacks result in 15 000 to 30 000 emergency department visits each year. Many of these emergency cases will undergo unnecessary surgeries or medical procedures due to misdiagnosis. The hallmarks of HAE recurrent episodes of swelling without urticaria, a family history of HAE, first attack in childhood, and worsening at puberty can be identified by a thorough family history, and the diagnosis can be confirmed by laboratory studies. Nevertheless, diagnosis may be delayed by 2 decades. We review available therapies and clinical characteristics that will both help clinicians diagnose HAE and distinguish among emergencies and nonemergency cases.

scholarly journals Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Mohamed Abuzakouk ◽  
Nada AlMahmeed ◽  
Esat Memisoglu ◽  
Martine McManus ◽  
Aydamir Alrakawi
Keyword(s):  
Abdominal Pain ◽  
Family History ◽  
Hereditary Angioedema ◽  
Positive Family History ◽  
Cleveland Clinic ◽  
Severe Abdominal Pain ◽  
Type Ii ◽  
Abdominal Ct ◽  
Abdominal Ct Scan ◽  
History Of

A 27-year-old Emirate man presented to Cleveland Clinic Abu Dhabi emergency department with a 4 year history of recurrent episodes of severe swellings affecting different parts of his body. He used to get 2 swelling episodes every week affecting either his face, hands, feet or scrotum and severe abdominal pain twice a week. Abdominal CT scan and a colonoscopy showed bowel wall oedema. There was no family history of similar complaint or of hereditary angioedema (HAE). Complement studies confirmed the diagnosis of HAE type II. He was commenced on danazol 100 mg twice daily and his symptoms resolved. This case report highlights the importance of considering HAE in patients with recurrent unexplained abdominal pain even in the absence of positive family history of HAE.

Review of hereditary angioedema

2016 ◽  
Vol 3 (2) ◽  
pp. 47-53 ◽  
Author(s):  
Lisa W. Fu ◽  
Tamlyn Freedman-Kalchman ◽  
Stephen Betschel ◽  
Gordon Sussman
Keyword(s):  
Hereditary Angioedema ◽  
The Body ◽  
Laryngeal Edema ◽  
Mucosal Surfaces ◽  
Dominant Disease ◽  
Important Regulator ◽  
Low Levels ◽  
New Treatments ◽  
Bradykinin Level ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) is a rare disease caused by deficiency of C1 esterase inhibitor (C1-INH). It is an autosomal dominant disease caused by a variety of mutations in the C1-INH gene. C1-INH is an important regulator of several pathways. One pathway it affects is the kallikrein–kinin pathway, which results in the generation of bradykinin. Bradykinin is an important mediator of edema. Diagnosis is based on low levels of C1-INH. HAE with normal C1-INH is also recognized in the literature and the pathophysiology is due to another aspect of the pathway being affected leading to increased bradykinin level. Bradykinin results in intermittent swelling of the cutaneous and mucosal surfaces. The swelling usually evolves over several hours and lasts a few days. Location of the swelling can involve any part of the body including fatal laryngeal edema. Newer treatments exist to treat acute attacks and reduce the frequency of future attacks. Earlier diagnosis and treatment of hereditary angioedema can prevent HAE-associated mortality. Statement of novelty: New treatments are used to treat these attacks. These treatments are aimed at patients having a more normal life with hereditary angioedema.

scholarly journals A clinical study of primary cutaneous localized amyloidosis

2020 ◽  
Vol 6 (6) ◽  
pp. 759
Author(s):  
Sahithi Chapalamadugu ◽  
A. Vijaymohan Rao
Keyword(s):  
Family History ◽  
Positive Family History ◽  
Polarized Light ◽  
The Body ◽  
Special Importance ◽  
Common Site ◽  
Medical College ◽  
Localized Amyloidosis ◽  
History Of ◽  
Macular Amyloidosis

<p class="abstract"><strong>Background:</strong> Amyloidosis refers to abnormal extracellular tissue deposition of one of the biochemically unrelated proteins that share certain characteristic staining properties such as apple green birefringence of congo red stained preparations under polarized light. Amyloid deposition may occur in many organs of the body (systemic amyloidosis) or may be restricted to one tissue site (localized amyloidosis).</p><p class="abstract"><strong>Methods:</strong> Observational study was conducted in the Department of Dermatology, Narayana Medical College and Hospital, Nellore. In this study of 70 patients a complete history and clinical data was taken including details of presenting complaints, age, site, duration, course of the disease was recorded. Special importance was given to the friction history using different scrubs, family history and photo exposure.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 70 patients of cutaneous amyloidosis 55 patients (78.6%) were of macular amyloidosis. Male:female ratio was 1:2.3. Majority of the patients were housewives (42.8%) and 28.5% of agriculturists. Majority of the patients (40) with cutaneous amyloidosis had disease duration between 2-5 years. In 70 patients of cutaneous amyloidosis 64.3% were symptomatic. 92% patients give history of using scrub. 50% of patients had history of photo exposure. Positive family history was seen in 7 patients (10%) and most common site involved was extensor aspect of arm.</p><p class="abstract"><strong>Conclusions:</strong> From our study it can be concluded that cutaneous amyloidosis is more common among females, most patients are symptomatic, majority have history of using scrub and photo exposure and most common site involved is extensor aspect of arm.</p><p class="abstract"> </p>

Case report of a massive pseudoaneurysm of the anterior tibial artery

2021 ◽  
Vol 29 (2) ◽  
pp. 293-298
Author(s):  
Anna Dorn ◽  
Peter Galkin ◽  
Egan Kalmykov ◽  
Payman Majd
Keyword(s):  
Therapeutic Strategy ◽  
Delayed Diagnosis ◽  
Clinical Signs ◽  
Arterial Injury ◽  
The Body ◽  
Anterior Tibial Artery ◽  
Medical Procedures ◽  
Diagnosis And Therapy ◽  
Anterior Tibial ◽  
History Of

The majority of arterial pseudoaneurysms treated in our department of vascular surgery are consequences of catheter-associated medical procedures and located in the groin region. Clinical signs, combined with the recent history of a percutaneous intervention, ensure quick diagnosis and therapy. However, pseudoaneurysms can develop after any artery of the body is injured. No consensus on the therapeutic strategy is achieved because of the rare nature of this injury. This study provided an overview of the methods described in previous studies and contributions to their clinical experience. A case of a young man whose injury was not recognized immediately and who presented months after the accident with a pseudoaneurysm of unusual location and size was reported. Sonographic diagnosis was confirmed through computed tomography angiography, and open surgical repair was performed with satisfactory results. Conclusion. This case is a reminder that seemingly minor accidents can cause arterial injury, and patients should be carefully examined to avoid delayed diagnosis and therapy.

scholarly journals Risk Factors of the First Febrile Seizures in Iranian Children

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Abolfazl Mahyar ◽  
Parviz Ayazi ◽  
Mazdak Fallahi ◽  
Amir Javadi
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Body Temperature ◽  
Breast Feeding ◽  
Febrile Seizures ◽  
The Body ◽  
Feeding Duration ◽  
Significant Difference ◽  
History Of ◽  
Iranian Children

Objective. Febrile seizures are the most common type of convulsion in children. The identification of influencing factors on incidence of the first febrile seizures is of prime priority. The aim of this study was to identify the risk factors of the first febrile seizures in Iranian children.Methods. In this case-control study 80 children aged 9 month to 5 years with their first febrile seizures were compared with 80 children with fever without seizure based on different risk factors in 2007.Results. There was significant difference between two groups regarding the gender, family history of febrile seizures, breast-feeding duration, and the body temperature (P<.05).Conclusion. Our study showed that factors including the gender, family history of febrile seizures, breast-feeding duration, and the body temperature are among the risk factors in occurrence of the first febrile seizure. Preventive measures to remove such risk factors could lead to lower the incidence of febrile seizures.

A hierarchical Bayesian tri-variate analysis on factors associated with anthropometric measures in a large sample of children and adolescents: the CASPIAN-IV study

2018 ◽  
Vol 31 (4) ◽  
pp. 443-449 ◽  
Author(s):  
Roya Kelishadi ◽  
Zahra Heidari ◽  
Iraj Kazemi ◽  
Tohid Jafari-Koshki ◽  
Marjan Mansourian ◽  
...  
Keyword(s):  
Family History ◽  
Children And Adolescents ◽  
Screen Time ◽  
The Body ◽  
Junk Food ◽  
Hierarchical Bayesian ◽  
Anthropometric Measures ◽  
Factors Associated ◽  
Variate Analysis ◽  
History Of

AbstractBackground:This study aimed to assess determinants of anthropometric measures in a nationally representative sample of Iranian children and adolescents.Methods:This nationwide study was conducted among 13,280 students, aged 6–18 years, who were randomly selected from 30 provinces in Iran. Anthropometric measures were determined by calibrated instruments. Demographic and socio-economic (SES) variables, lifestyle behaviors, family history of chronic disease and prenatal factors were studied, as well. A hierarchical Bayesian tri-variate analysis was used to assess the factors associated with obesity measures of the body mass index (BMI), waist-to-height ratio (WHtR) and wrist circumference (WrC).Results:The results showed that the BMI was associated with SES score, family history of obesity, family history of diabetes mellitus, physical inactivity, screen time, duration of sleep, breakfast consumption, birth weight, breastfeeding, junk food and place of residence (urban-rural). All these factors were also significantly associated with WrC except for consumption of junk food. Many of these factors had a partial but significant relationship with WHtR.Conclusions:Various factors contribute to obesity. Preventive and educational programs on manageable factors such as increasing physical activity, eating breakfast and limiting TV or screen time could be helpful in controlling obesity in schoolchildren and reducing associated complications.

scholarly journals Head Tremor in Cervical Dystonia

2000 ◽  
Vol 27 (2) ◽  
pp. 137-142 ◽  
Author(s):  
P.K. Pal ◽  
A. Samii ◽  
M. Schulzer ◽  
E. Mak ◽  
J.K.C. Tsui
Keyword(s):  
Family History ◽  
Genetic Association ◽  
Cervical Dystonia ◽  
Age At Onset ◽  
Positive Family History ◽  
Head Tilt ◽  
The Body ◽  
Hand Tremor ◽  
Head Tremor ◽  
History Of

ABSTRACT:Objective:To compare the clinical characteristics, natural history, and therapeutic outcome of patients with cervical dystonia (CD) with head tremor (HT+) and without head tremor (HT-).Methods:We prospectively evaluated 114 consecutive patients of CD over a 9-month period with a detailed questionnaire. Chi-square and t-tests were employed for statistical analysis.Results:Seventy-eight (68.4%) patients had head tremor and 27 of them (34.6%) had tremor as one of the first symptoms. Age at onset of symptoms were similar in HT+ and HT- groups; however there was a higher prevalence in women in the former group (66.7% vs. 41.7%; p=0.01). HT+ patients had more frequent positive family history of essential-like hand/head tremor (21.8% vs. 5.5%; p<0.05), associated neck pain (92.3% vs. 77.8%; p<0.05), and essential-like hand tremor (40% vs. 8.3%; p<0.001). They also appeared to have more frequent history of preceding head/neck trauma (14.1% vs. 8.3%), frequent head rotation (88.5% vs. 69.4%) and antecollis (12.8% vs. 5.5%) but less often head tilt (37.2% vs. 47.2%) and gestes antagonistes (60.2% vs. 75%) than the HT- patients; however these differences were not statistically significant. The frequency of prior psychiatric illnesses, the incidence of dystonias in other parts of the body, frequency of retrocollis and shoulder elevation, and spontaneous remission were similar in the two groups.Conclusions:Head tremor is common in CD and is more commonly associated with hand tremor and family history of tremor or other movement disorders. This supports a possible genetic association between CD and essential tremor (ET). Linkage studies are required to evaluate the genetic association between CD and ET.

scholarly journals Lifelong cumulative incidence of acquired aortic stenosis and its predictors in a large middle-aged men population followed up to 42 years

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
S.M Kontogeorgos ◽  
E Thunstrom ◽  
G Lappas ◽  
A Rosengren ◽  
M Fu
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Aortic Stenosis ◽  
Pulse Pressure ◽  
Cumulative Incidence ◽  
Cumulative Risk ◽  
The Body ◽  
Cox Proportional Hazards Model ◽  
History Of

Abstract Background Acquired aortic stenosis (AS) is the most common valvular disorder that rises exponentially with age; it has high mortality after symptoms appear. Factors that predict the development of AS are still unknown. Some studies imply that the atherosclerotic factors are involved in the development of AS, but the findings have been heterogeneous. Purpose To estimate lifelong cumulative incidence of AS and analyse its predictors. Methods We included a random sample of men, born 1915–1925 in Gothenburg, Sweden, and examined them in 1970–1973 (participation rate 75%). They were between 47 and 55 years in the beginning and 57–65 years when the examination-period ended. Out of 7493 men 57 were excluded due to myocardial infarction prior to baseline; 7436 were thus followed from the inclusion date until a discharge diagnosis of AS or death, with a maximum follow up time of 42 years and mean follow-up time 26.8 years. Men with AS were identified from the Swedish National Patient Register and those who died from the Swedish Cause of Death Register. We used machine learning to identify the most important factors that predict AS. For these factors, we then estimated hazard ratios for the risk to acquire AS through Cox proportional hazards model. Results The lifelong cumulative incidence to acquire AS was 2.66% (198 out of 7436 individuals). For men with measurements approximately at the quartiles of the pulse pressure distribution, more specifically 44, 52, 62 mm Hg, the estimated cumulative risk were 1.97%, 2.74% and 3.07% respectively. For the body mass index (BMI) we had accordingly for measurements around 23, 25 and 27 kg/m2 estimated cumulative risk 2.52%, 2.80%, 2.79% respectively. For cholesterol values of 5, 6 and 7 mmol/l (approximately at quartile divisions) the estimated cumulative risk was 1.77%, 1.79% and 3.20% respectively. The estimated cumulative risks for the younger, with age around 47 and the older participants, with age around 55 were 1.76% and 2.68 respectively. Men with family history of infarction in a sibling had an estimated cumulative risk at 4.66% level whereas those with not at 2.51%. The factors that were significantly associated with the development of AS in the Cox proportional model are: cholesterol level (HR=1.24, CI 95% 1.11–1.39, p=0.0001), pulse pressure (HR=1.01, CI 95% 1.01–1.02, p=0.0037), BMI (HR=1.06, CI 95% 1.02–1.11, p=0.0089), age (HR=1.11, CI 95% 1.04–1.19, p=0.0010) and family history of myocardial infarction in a sibling (HR=2.38, CI 95% 1.50–3.79, p=0.0002). Conclusion Lifelong cumulative incidence of acquired AS is approximately 2.7%. Multiple factors known also to be associated with arteriosclerosis were identified to increase the life-long risk of developing AS. Funding Acknowledgement Type of funding source: None

scholarly journals Atopic Dermatitis and Psoriasis as Overlapping Syndromes

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
A. Bozek ◽  
M. Zajac ◽  
M. Krupka
Keyword(s):  
Atopic Dermatitis ◽  
Family History ◽  
Atopic Disease ◽  
Skin Lesions ◽  
The Body ◽  
T Helper 17 ◽  
Tnf Α ◽  
History Of

Background/Objectives. Cooccurrence of atopic dermatitis (AD) and psoriasis (PS) is not common. However, both diseases are still of interest because of their comprehensive and diverse mechanisms. This study aimed to present the clinical and immunological profiles of patients with concomitant AD and PS and compare them with those of patients with only one of the diseases. Methods. In this observational study, 38 children with concomitant AD and PS with a mean age of 6.5 ± 3.2  yrs were compared with 41 similar patients with AD only ( 5.3 ± 5.1  yrs) and 28 patients with PS only ( 6.4 ± 4.3  yrs). All patients underwent dermatological examinations, including determination of SCORAD and PASI scores. TNF-α, IFN-γ, IL-2, IL-4, IL-5, IL-6, IL-8, IL-12, IL-17, IL-18, IL-22, I:-33, and TARC/CCL17 were measured by ELISA according to the manufacturer’s instructions. Results. Patients with concomitant AD and PS were frequently boys and overweight and had skin lesions equally distributed throughout the body. Children with concomitant AD and PS were more likely to report a family history of atopic disease than children with only AD or PS, and those with AD were more likely to report a family history of atopic disease than those with PS. Significant differences were observed in the concentration of IL-17 between patients with AD and PS and those with only AD or PS: 9.1 ± 3.7  pg/ml vs. 4.8 ± 2.9  pg/ml; and 9.1 ± 3.7  pg/ml vs. 5.2 ± 3.9  pg/ml, respectively (PD vs. AD, p = 0.01 ; PD vs. PS, p = 0.03 ). Conclusions. AD and PS can coexist. The role of T helper 17 cells may be more essential than believed.

A Case of Saturnine Insanity

1886 ◽  
Vol 32 (137) ◽  
pp. 56-58 ◽  
Author(s):  
W. Hale White
Keyword(s):  
Family History ◽  
The Body ◽  
Quiet Sleep ◽  
Previous Night ◽  
Moderate Drinker ◽  
The Family ◽  
History Of

Thomas H., æt. 40, was admitted into Guy's Hospital under my care on February 6th, 1886, for unconsciousness following fits. No family history of insanity or fits; father has gout, otherwise the family history is very good. The patient is a plumber. Ten years ago he had colic, and also eight years ago. Seven years ago he had “rheumatic gout,” to which he has been subject ever since. He has been a moderate drinker. On February 2nd he was troubled with a severer attack than usual of pain in the wrist. On February 4th in the evening he had a fit, commencing by his making a loud, shrill noise, rapidly followed by trembling in the body and limbs. He foamed at the mouth; the teeth were clenched; the eyes were staring. The fit lasted thirty minutes, when he seemed to recover himself, but on being spoken to did not answer, seeming stupid. He got up, dressed himself, and went downstairs. He appeared fairly well till five o'clock the next evening, during which time his power of speech partly returned. He expressed a wish to go to bed, which he did, and fell off into a quiet sleep, remaining undisturbed till 12 o'clock, when he had another fit resembling the first. This second one lasted for fifteen minutes, and about three minutes after it had ceased another took place. He then had a succession of them for about three hours, each being rather more maniacal than the previous. His voice entirely left him, and he again would or could not speak. A medical man administered a draught, after which the patient fell into a quiet sleep. He remained free from the fits till the following night, when he had another series rather severer than on the previous night. During this night the patient was very restless, getting out of bed and throwing his arms about. He became so violent that he had to be held down by four men. After a time he became quieter, and was brought to Guy's Hospital.

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