RESUMEN

BACKGROUND Angioedema is characterized by localized self-limiting edema of the deep dermis, subcutaneous, and submucosal tissues. Acute episodes often involve the skin of the face, lips, tongue, limbs, and genitals, as well as internal areas of the body and respiratory and gastrointestinal mucosa, which could be life-threatening. Histamine and bradykinin are the most recognized vasoactive mediators in the pathophysiology of angioedema. Tissue plasminogen activator (tPA) is a fibrinolytic that is commonly used for the treatment of cerebrovascular accidents. Angioedema is a rare adverse effect of tPA, with an estimated incidence of 0.02% in patients with myocardial infarction or pulmonary embolism and 0.2% to 5.1% in patients with stroke. We report a unique case of tPA-associated angioedema with 24-h management. CASE REPORT A 79-year-old male patient presented to the Emergency Department with acute onset right-sided weakness, right-sided facial droop, and speech difficulties. Following the initial evaluation, it was determined that he was a candidate for receiving tPA therapy. On arrival at the Intensive Care Unit, he was noted to have right upper and then lower lip swelling. The patient was asymptomatic and did not show any signs concerning airway compromise. Treatment included systemic corticosteroids and antihistamines. The progression of the angioedema was further described with sequential images. The angioedema was completely resolved with treatment. CONCLUSIONS Angioedema is a rare but potentially life-threatening adverse effect of tPA. Although it generally has a mild self-limiting course, it can cause life-threatening airway compromise.

Asunto(s)

Angioedema , Fibrinolíticos , Activador de Tejido Plasminógeno , Humanos , Masculino , Angioedema/inducido químicamente , Anciano , Activador de Tejido Plasminógeno/efectos adversos , Fibrinolíticos/efectos adversos , Fibrinolíticos/uso terapéutico

RESUMEN

Alpha and Beta Thalassemia are autosomal recessive anemias that cause significant morbidity and mortality worldwide, especially in the Middle East and North Africa (MENA) region where carrier rates reach up to 50%. We report the case of two siblings of Palestinian origin born who presented to our tertiary healthcare center for the management of severe transfusion dependent hemolytic anemia. Before presentation to our center, the siblings were screened for a-thalassemia using the Alpha-globin StripAssay. They were found to carry the α2 polyA-1 [AATAAA > AATAAG] mutation in the heterozygous form, which was insufficient to make a diagnosis. No pathogenic variants were detected on Sanger sequencing of the HBB gene. Full sequencing of the a-gene revealed compound heterozygous variants (HBA1:c.119_121delCCA and the previously detected HBA2:c.*+94A > G Poly A [A->G]) with trans inheritance. This report highlights the impact of non-deletional mutations on α-globin chain stability. The compound heterozygosity of a rare α-globin chain pathogenic variant with a polyadenylation mutation in the probands leads to clinically severe a-thalassemia. Due to the high carrier status, the identification of rare mutations through routine screening techniques in our populations may be insufficient. Ongoing collaboration among hematologists, medical geneticists, and counselors is crucial for phenotypic-genotypic correlation and assessment of adequate genetic testing schemes.

Asunto(s)

Hemoglobinas Anormales , Hermanos , Globinas alfa , Femenino , Humanos , Masculino , Globinas alfa/genética , Talasemia alfa/genética , Talasemia alfa/diagnóstico , Árabes/genética , Transfusión Sanguínea , Hemoglobinas Anormales/genética , Heterocigoto , Mutación , Preescolar , Niño

RESUMEN

A pleural effusion is an accumulation of fluid in the pleural space due to an imbalance between formation and removal. They're commonly caused by heart failure or infections. We report a case of a 56-year-old male with community-acquired pneumonia and a trace pleural effusion on presentation. Despite clinical improvement with antibiotic therapy, the effusion significantly increased on day two. This case report is unique because the patient had an enlarging effusion, but remained asymptomatic and denied worsening shortness of breath, chest pain, or cough. The patient was treated successfully with chest tube placement and intrapleural fibrinolytic therapy. This report emphasizes the importance of repeat imaging for asymptomatic parapneumonic effusions (PPE) that can complicate community-acquired pneumonia. We aim to raise awareness of the atypical presentation and management of parapneumonic effusions through a case report.