Induced Acute Hereditary Angioedema: A Life-Threatening Condition

Hereditary Angioedema (HAE) is a potentially life-threatening condition. With episodic, unpredictable swelling, HAE negatively affect the quality of life for those affected individuals. To reduce the morbidity and mortality of HAE are the primary goal for the disease management. In addition to have access to therapeutic drugs for their acute HAE attacks, many patients require long term prophylaxis (LTP) to reduce their attack frequency and severity. Preventing HAE attack by regular administration of medicine has become an important part of HAE disease management. Over the past few years, growing number of therapeutic options for the HAE LTP have made it possible for physicians to choose the most appropriate and effective treatment for individual patients. C1 INH concentrate and plasma kallikrein inhibitors (IV or SC) have largely replaced the oder modality of treatment consisting different androgen derivatives or antifibrinolytics. Additional options, such as oral kallikrein inhibitor, antisense RNA/plasma kallikrein, anti-Factor 12a, bradykinin receptor blocker or future gene therapy are under clinical investigation. The significant cost and the uncertainty of its long term safety may be the primary limiting factors for its clinical application. The limited data for young children and pregnant women pose additional challenge for physicians to assess the risk and benefit when considering LTP treatment.

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Hereditary angioedema and pregnancy: successful management of recurrent and frequent attacks of angioedema with C1-inhibitor concentrate, danazol and tranexamic acid – a case report

Obstetric Medicine ◽

10.1258/om.2009.090003 ◽

2009 ◽

Vol 2 (3) ◽

pp. 123-125 ◽

Cited By ~ 2

Author(s):

D S Milingos ◽

P Madhuvrata ◽

J Dean ◽

A Shetty ◽

D M Campbell

Keyword(s):

Case Report ◽

Pregnant Woman ◽

Tranexamic Acid ◽

Hereditary Angioedema ◽

C1 Inhibitor ◽

Successful Management ◽

C1 Esterase Inhibitor ◽

Threatening Condition ◽

Life Threatening ◽

Esterase Inhibitor

Hereditary angioedema (HAE) is a rare but potentially life-threatening condition caused by deficiency of C1 esterase inhibitor. It is characterized by subcutaneous swelling in any part of the skin, gastrointestinal and respiratory tracts. We present the case of a pregnant woman with known HAE that deteriorated during pregnancy with frequent attacks that were managed successfully with danazol, tranexamic acid and regular intravenous administration of C1 esterase inhibitor.

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May-Thurner syndrome – Are we aware enough?

VASA ◽

10.1024/0301-1526/a000775 ◽

2019 ◽

Vol 48 (5) ◽

pp. 381-388 ◽

Cited By ~ 6

Author(s):

Katalin Mako ◽

Attila Puskas

Keyword(s):

Contraceptive Use ◽

Iliac Vein ◽

Common Iliac Vein ◽

Vein Thrombosis ◽

Compression Syndrome ◽

Threatening Condition ◽

Life Threatening ◽

Iliac Vein Compression ◽

Iliac Vein Compression Syndrome ◽

The Right

Summary. Iliac vein compression syndrome (May-Thurner syndrome – MTS) is an anatomically variable clinical condition in which the left common iliac vein is compressed between the right common iliac artery and the underlying spine. This anatomic variant results in an increased incidence of left iliac or iliofemoral vein thrombosis. It predominantly affects young women in the second or third decades of life with preponderance during pregnancy or oral contraceptive use. Although MTS is rare, its true prevalence is underestimated but it can be a life-threatening condition due to development of pulmonary embolism (PE). In this case based review the authors present three cases of MTS. All patients had been previously confirmed with PE, but despite they were admitted to hospital, diagnosed and correctly treated for PE and investigated for thrombophilia, the iliac vein compression syndrome was not suspected or investigated. With this presentation the authors would like to emphasize that MTS is mostly underdiagnosed, and it needs to be ruled out in left iliofemoral vein thrombosis in young individuals.

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Severe Alveolar Hemorrhage – What’s in it for the Gastroenterologist?

Journal of Gastrointestinal and Liver Diseases ◽

10.15403/jgld.2014.1121.254.cut ◽

2016 ◽

Vol 25 (4) ◽

pp. 555-558

Author(s):

Alina Popp

Keyword(s):

Celiac Disease ◽

International Normalized Ratio ◽

Gluten Free Diet ◽

Alveolar Hemorrhage ◽

Severe Anemia ◽

Gluten Free ◽

Pulmonary Infiltrates ◽

Pulmonary Hemosiderosis ◽

Threatening Condition ◽

Life Threatening

Background: Alveolar hemorrhage is a potentially life-threatening condition which is usually managed by the pulmonologist. When considering its etiology, there is a rare association that sets the disease into the hands of the gastroenterologist. Case presentation: We report the case of a 48 year-old female who was admitted to the intensive care unit for severe anemia and hemoptysis. On imaging, diffuse pulmonary infiltrates suggestive of alveolar hemorrhage were detected and a diagnosis of pulmonary hemosiderosis was made. She received cortisone therapy and hematologic correction of anemia, with slow recovery. In search of an etiology for the pulmonary hemosiderosis, an extensive workup was done, and celiac disease specific serology was found positive. After confirmation of celiac disease by biopsy, a diagnosis of Lane-Hamilton syndrome was established. The patient was recommended a gluten-free diet and at 6 months follow-up, resolution of anemia and pulmonary infiltrates were observed. Conclusion: Although the association is rare, celiac disease should be considered in a patient with idiopathic pulmonary hemosiderosis. In our case, severe anemia and alveolar infiltrates markedly improved with glucocorticoids and gluten-free diet. Abbreviations: APTT: activated partial thromboplastin time; BAL: bronchoalveolar lavage; CD: celiac disease; Cd: crypt depth; GFD: gluten-free diet; GI: gastrointestinal; IEL: intraepithelial lymphocyte; INR: international normalized ratio; IPH: idiopathic pu

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LAPAROSCOPIC CHOLECYSTECTOMY IN ACUTE CHOLECYSTITIS: A PROSPECTIVE STUDY.

10.36106/ijsr/7502922 ◽

2019 ◽

Author(s):

Madan Goyal ◽

R K Goel

Keyword(s):

Laparoscopic Cholecystectomy ◽

Acute Cholecystitis ◽

Open Cholecystectomy ◽

Critical View Of Safety ◽

Recent Onset ◽

Conversion To Open Cholecystectomy ◽

Threatening Condition ◽

Life Threatening ◽

Fluid Collections ◽

A Prospective Study

Acute cholecystitis (AC) is a potentially life-threatening condition. LC was initially considered to be a relative contraindication for laparoscopic cholecystectomy (LC), but with increase in general expertise, early LC was recommended in selected patients1. Aprospective study of LC in grade 1 and 2 AC patients with mild to moderate inflammatory changes in the gallbladder and no significant organ dysfunction, was performed during October 2016 to July 2019. A total of 78 patients, out of 408 cholecystectomies performed during this period, were included in this study. Criteria for diagnosing AC was, recent onset of pain in right hypochondrium, fever, leucocytosis, pericholecystic fluid collections, subserosal oedema on ultrasound, pyocele and other pathological evidence of AC. Patients presented and operated within 4 days of onset of symptoms showed better results as compared to those who could be operated after 4 days and within 14 days. Five patients required conversion to open cholecystectomy because of complex adhesions in 2, critical view of safety was unachievable in 2 and in 1 for troublesome bleeding.

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PRO–CF–MED, Clinical Proof of concept for a RNA–targeting Oligonucleotide for a Cystic fibrosis–F508del MEDication, Horizon2020

Impact ◽

10.21820/23987073.2018.3.52 ◽

2018 ◽

Vol 2018 (3) ◽

pp. 52-54

Author(s):

Nicolas Lamontagne

Keyword(s):

Cystic Fibrosis ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Rna Targeting ◽

Threatening Condition ◽

Life Threatening ◽

Cftr Protein ◽

Disease Modifying ◽

Cystic Fibrosis Transmembrane ◽

Specific Challenge

Cystic fibrosis (CF) is a progressive life–shortening disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene leading to a dysfunctional CFTR protein. The disease affects over 70,000 patients worldwide and while many mutations are known, the F508del mutation affects 90% of all patients. The absence of CFTR in the plasma membrane leads to a dramatic decrease in chloride efflux, resulting in viscous mucus that causes severe symptoms in vital organs like the lungs and intestines. For CF patients that suffer from the life threatening F508del mutation only palliative treatment exist. PRO–CF–MED addresses the specific challenge of this call by introducing the first disease modifying medication for the treatment of the CF patients with F508del mutation. The PRO–CF–MED project has been designed to assess the potential clinical efficacy of QR–010, an innovative disease modifying oligonucleotide–based treatment for F508del patients. Partners within PRO–CF–MED have generated very promising preclinical evidence for QR–010 which allows for further clinical assessment of QR–010 in clinical trials. PRO–CF–MED will enable the fast translation of QR–010 towards clinical practice and market authorisation. PRO–CF–MED has the potential to transform this life–threatening condition into a manageable one.

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Advanced care planning: thinking ahead for parents, carers, children, and young people

10.1093/oso/9780198802136.003.0016 ◽

2018 ◽

Author(s):

Angela Thompson

Keyword(s):

Spiritual Needs ◽

Care Planning ◽

Best Interest ◽

Social Emotional ◽

Children And Young People ◽

Adult Services ◽

Active Approach ◽

Threatening Condition ◽

Life Threatening ◽

Advance Care

Advance care planning (ACP) in paediatrics applies from the diagnosis of a life-limiting/life-threatening condition onwards. It encompasses the management of intermittent potentially reversible episodes through to end-of-life care in keeping with the child’s best interest. It is an active approach to managing care and acknowledges the child’s and family’s broader social, emotional, and spiritual needs and keeps the child central and paramount to all planning. It requires transparent discussions and effectively documented agreements that are well communicated, readily accessible, and immediately identifiable. It is essential to regularly review and amend as necessary. They describe the care agreed at that point in time in the child’s best interest, in line with RCPCH guidance. Challenges may particularly occur at the time of transition to adult services.

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A Case of Exertional Heat Stroke Complicated by Hypoxic Hepatitis

Case Reports in Emergency Medicine ◽

10.1155/2020/8724285 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Bertram K. Woitok ◽

Shawki Bahmad ◽

Gregor Lindner

Keyword(s):

Supportive Care ◽

Liver Failure ◽

Acute Liver Failure ◽

Multiorgan Failure ◽

Heat Stroke ◽

Exertional Heat Stroke ◽

Hypoxic Hepatitis ◽

Threatening Condition ◽

Life Threatening ◽

Delayed Referral

Background.Exertional heat stroke is a life-threatening condition often complicated by multiorgan failure. We hereby present a case of a 25-year-old male presenting with syncope after a 10 km run in 28°C outside temperature who developed acute liver failure. Case Presentation. Initial temperature was found to be 41.1°C, and cooling measures were rapidly applied. He suffered from acute renal failure and rhabdomyolysis and proceeded to acute liver failure (ASAT 6100 U/l and ALAT 6561 U/l) due to hypoxic hepatitis on day 3. He did not meet criteria for emergency liver transplantation and recovered on supportive care. Conclusions. Acute liver failure due to heat stroke is a life-threatening condition with often delayed onset, which nevertheless resolves on supportive care in the majority of cases; thus, a delayed referral to transplant seems to be reasonable.

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The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

Clinical Reviews in Allergy & Immunology ◽

10.1007/s12016-021-08855-4 ◽

2021 ◽

Author(s):

Andrea Zanichelli ◽

Henriette Farkas ◽

Laurance Bouillet ◽

Noemi Bara ◽

Anastasios E. Germenis ◽

...

Keyword(s):

Hereditary Angioedema ◽

Rare Condition ◽

C1 Inhibitor ◽

C1 Inhibitor Deficiency ◽

Therapeutic Decisions ◽

Life Threatening ◽

Enhance Patient Care ◽

Electronic Support ◽

The Impact ◽

Global Registry

AbstractHereditary angioedema (HAE) is a rare condition, mostly due to genetic deficiency of complement C1 inhibitor (C1-INH). The rarity of HAE impedes extensive data collection and assessment of the impact of certain factors known to affect the course of this disabling and life-threatening disease. Establishing a global registry could assist to overcome such issues and provides valuable patient data from different countries. The HAE Global Registry is a disease-specific registry, with web-based electronic support, where data are provided by physicians and patients through a dedicated application. We collected data between January 1, 2018, and August 31, 2020. Data on 1297 patients from 29 centers in 5 European countries were collected. At least one attack was recorded for 497 patients during the study period. Overall, 1182 patients were diagnosed with HAE type 1 and 115 with type 2. At the time of database lock, 389 patients were taking long-term prophylactic medication, 217 of which were on danazol. Most recorded attacks affected the abdomen, were generally moderate in severity, and occurred in patients who were not on prophylactic treatment (70.6%, 6244/8848). The median duration of attacks was 780 min (IQR 290–1740) in patients on prophylactic medication and 780 min (IQR 300–1920) in patients not on continuous prophylactic medication. In conclusion, the establishment of a registry for C1-INH-HAE allowed collection of a large amount of data that may help to better understand the clinical characteristics of this disease. This information may enhance patient care and guide future therapeutic decisions.

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Ultrasound diagnosis of dissecting thoracic aortic aneurysms: procedure with a handheld device and a video-illustrated case

Tropical Doctor ◽

10.1177/0049475520959906 ◽

2021 ◽

Vol 51 (1) ◽

pp. 10-15

Author(s):

Kenneth V Iserson ◽

Sri Devi Jagjit ◽

Balram Doodnauth

Keyword(s):

Aortic Dissection ◽

Correct Diagnosis ◽

Signs And Symptoms ◽

Aortic Aneurysms ◽

Thoracic Aortic Aneurysms ◽

Handheld Device ◽

Thoracic Aortic Dissection ◽

Threatening Condition ◽

Life Threatening ◽

Handheld Ultrasound

Acute thoracic aortic dissection is an uncommon, although not rare, life-threatening condition. With protean signs and symptoms that often suggest more common cardiac or pulmonary conditions, it can be difficult to diagnose. Ultrasound has proven useful in making the correct diagnosis. This case demonstrates that training gained using standard ultrasound machines can be easily and successfully adapted to newer handheld ultrasound devices. The examination technique using the handheld device is illustrated with photos and a video.

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