scholarly journals Hereditary angioedema: the challenges of cross-border family investigation and treatment

2020 ◽  
Vol 13 (4) ◽  
pp. e231906
Author(s):  
Anna Trier Heiberg Brix ◽  
Trine Mehlbye Svensson ◽  
Malin Sandberg ◽  
Anette Bygum
Keyword(s):  
Case Report ◽  
Family History ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Upper Airway ◽  
Index Patient ◽  
Cross Border ◽  
The Family ◽  
Life Threatening ◽  
Family Investigation

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Her younger sister and father were diagnosed later, following investigation of the family. Exploring the family history, deaths due to suffocation were described in previous generations and other family members based in Sweden, Germany, Turkey, Saudi Arabia, USA and Syria could also potentially be affected. This highlights the need for a cross-border effort to diagnose and treat this inherited disorder.

Caregivers’ role in managing hereditary angioedema and perceptions of treatment-related burden

2021 ◽  
Vol 42 (3) ◽  
pp. S11-S16 ◽  
Author(s):  
Timothy J. Craig ◽  
Aleena Banerji ◽  
Marc A. Riedl ◽  
Jessica M. Best ◽  
Jinky Rosselli ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Genetic Disease ◽  
Online Survey ◽  
Scientific Literature ◽  
Upper Airway ◽  
The United States ◽  
Care Recipient ◽  
Psychosocial Impacts ◽  
Life Threatening ◽  
Familial Caregivers

Hereditary angioedema (HAE) is a rare genetic disease that results in recurrent, debilitating, and potentially life-threatening swelling episodes in the extremities, genitals, gastrointestinal tract, and upper airway. Patients can experience significant burdens related to their disease. Informal or familial caregivers often support patients with HAE and likely share in the disease-related burdens, although there are limited HAE caregiver‐focused reports in the scientific literature. In the United States, we conducted an online survey of adults caring for an individual with HAE to better understand their experiences with the disease and identify psychosocial impacts of providing care for a patient with HAE. Thirty caregivers provided responses to the survey. Most caregivers were family members of the care recipient and many had HAE themselves. Caregivers reported participating in a number of medical-related tasks and experiencing some burdens as a result of caring for a person with HAE.

scholarly journals Life–threatening Pulmonary Oedema Secondary to Tracheal Compression

2002 ◽  
Vol 30 (6) ◽  
pp. 804-806 ◽  
Author(s):  
H. Butterell ◽  
R. H. Riley
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Airway Obstruction ◽  
Pulmonary Oedema ◽  
Negative Pressure ◽  
Upper Airway ◽  
Tracheal Compression ◽  
Negative Pressure Pulmonary Oedema ◽  
Life Threatening ◽  
Thyroid Goitre

We present a case of negative pressure pulmonary oedema due to an overlooked cause. A 45-year-old female patient presented to the emergency department unconscious with severe pulmonary oedema. Subsequent investigations revealed a thyroid goitre causing significant tracheal compression. This case report highlights an extremely rare but potentially dangerous sequela of upper airway obstruction.

scholarly journals Hereditary angioedema: an update on causes, manifestations and treatment

2019 ◽  
Vol 80 (7) ◽  
pp. 391-398 ◽  
Author(s):  
Hilary J Longhurst ◽  
Konrad Bork
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Self Administration ◽  
Diagnosis And Management ◽  
Life Threatening ◽  
Short And Long Term

Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Michelle Fog Andersen ◽  
Anette Bygum
Keyword(s):  
Idiopathic Thrombocytopenic Purpura ◽  
Hereditary Angioedema ◽  
Care Setting ◽  
Autosomal Dominant ◽  
Bleeding Episode ◽  
Genetic Disorder ◽  
Acute Attack ◽  
Autosomal Dominant Trait ◽  
Thrombocytopenic Purpura ◽  
Life Threatening

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

Congenital cholesteatoma in siblings

2013 ◽  
Vol 127 (11) ◽  
pp. 1143-1144 ◽  
Author(s):  
L D Landegger ◽  
M S Cohen
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Family History ◽  
Physical Examination ◽  
Age At Onset ◽  
Family Members ◽  
Initial Presentation ◽  
Congenital Cholesteatoma ◽  
The Family ◽  
Hereditary Factors

AbstractIntroduction:The exact aetiology of congenital cholesteatoma, the less common form of this destructive disease, is still under debate.Case report:A two-year-old boy was referred to paediatric otolaryngology with persistent, bloody, left-sided otorrhoea refractory to oral and ototopical antibiotics. Prior to its onset at age 16 months, all ear examinations on the affected side were normal. Physical examination, imaging with computed tomography and eventual tympanomastoidectomy revealed extensive cholesteatoma. The extent of the disease, age at onset of symptoms and absence of otological disease before initial presentation suggested the diagnosis of congenital cholesteatoma. Review of the family history revealed that the patient's older brother had undergone tympanomastoidectomy for a small, well-encapsulated, mesotympanic congenital cholesteatoma at two years of age.Discussion:This case joins a single, previous report describing congenital cholesteatoma in multiple family members, suggesting that in some cases, hereditary factors may play a role in the formation of the disease.

scholarly journals Gilles de la Tourette Syndrome—A Case Report from Guyana in South America

1992 ◽  
Vol 5 (1) ◽  
pp. 39-41 ◽  
Author(s):  
V. Eapen ◽  
M. M. Robertson
Keyword(s):  
Case Report ◽  
Family History ◽  
South America ◽  
Tourette Syndrome ◽  
Attention Deficit Disorder ◽  
Positive Family History ◽  
Cross Cultural ◽  
Biological Factors ◽  
The Family ◽  
Cultural Similarity

A case of the Gilles de la Tourette syndrome from Guyana in South America is presented. The patient had a positive family history as well as coprolalia, echolalia, and attention deficit disorder with hyperactivity. The family history and cross-cultural similarity emphasise the biological factors in the aetiology of the syndrome.

Gilles De La Tourette Syndrome and Epilepsy: A Case Report

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
C. Silva ◽  
C. Nunes
Keyword(s):  
Case Report ◽  
Family History ◽  
Tourette Syndrome ◽  
Temporal Region ◽  
Obsessive Compulsive ◽  
Paroxysmal Activity ◽  
Obsessive Compulsive Symptoms ◽  
Temporal Epilepsy ◽  
The Family ◽  
Dsm Iv

Introduction:The association between tics, epilepsy and obsessive-compulsive symptoms, is still little explored in literature.Case report:The authors describe case of a male patient, 25 years old, with some obsessive personality traits and with the appearance of simple multiple tics, at 7-8 years old. The tics were vocal and motor, particularly facial and worsen with anxiety. Of the personal history is highlighted the existence of repetitive tonsilitis and in the family history the presence of tics in 3 paternal first cousins. This patient started only consultation of Neurology in 2003 and was medicated with haloperidol 1 mg / day. Already in 2007 it was triggered absence crisis, so that after additional study (EEG and MRI) and detection of focal paroxysmal activity in the left fronto-temporal region, the patient was medicated with levetiracetam 1000 mg / day. Currently holds the following therapy: levetiracetam 1500 mg / day, clonidine 0225 mg / day and buspirone 30 mg / day, with clinical improvement occurred.Conclusions:This patient on one hand, presents DSM-IV-TR (2001) diagnostic criteria for Gilles de la Tourette syndrome and on the other hand, criteria for the diagnosis of fronto-temporal epilepsy. It is also relevant the patient"s family history, that is consistent with the high risk of Tourette Syndrome in the first degree relatives.

Is the family history positive for SLE a predisposing factor for anti-TNFalpha blockers induced lupus? A case report

2010 ◽  
Vol 77 (5) ◽  
pp. 484-485 ◽  
Author(s):  
Paola Caramaschi ◽  
Viviana Ravagnani ◽  
Lisa Maria Bambara ◽  
Domenico Biasi
Keyword(s):  
Case Report ◽  
Family History ◽  
Predisposing Factor ◽  
The Family

scholarly journals Case Report: Upper airway obstruction due to rheumatoid arthritis

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 119
Author(s):  
Mohan Rudrappa ◽  
Laxmi Kokatnur ◽  
Sanket Shah
Keyword(s):  
Rheumatoid Arthritis ◽  
Case Report ◽  
Airway Obstruction ◽  
Medical Literature ◽  
Upper Airway ◽  
Upper Airway Obstruction ◽  
Threatening Condition ◽  
Life Threatening ◽  
Cricoarytenoid Arthritis ◽  
Laryngeal Involvement

Rheumatoid arthritis (RA) is a common autoimmune disease characterized by inflammation of small joints. Small synovial joints in the larynx can also become affected, and laryngeal involvement is seen in more than half of patients with RA. As most patients have subtle symptoms and indolent course, they are either misdiagnosed or undiagnosed. The acute worsening of cricoarytenoid arthritis can cause sudden upper airway obstruction and may require emergency intubation or tracheostomy. This life-threatening condition is described in only a handful of cases in the medical literature. Physicians should be aware of this rare but life-threatening consequence of RA. We present a case of sudden and severe upper airway obstruction secondary to laryngeal involvement in a patient with long-standing RA.

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