Cargando…

Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report

Beta-thalassemia is an autosomal recessive hemoglobinopathy that can result in microcytic hypochromic anemia, splenomegaly, hypercoagulability, and long-term sequelae. Beta-thalassemia intermedia, specifically, is diagnosed based on the moderate severity of illness, which does not carry the early sy...

Descripción completa

Detalles Bibliográficos
Autores principales: Dennis, Jasmine L, Morrow, Dustin, Cupp, Julia A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802117/
https://www.ncbi.nlm.nih.gov/pubmed/33447492
http://dx.doi.org/10.7759/cureus.12063
_version_ 1783635706025869312
author Dennis, Jasmine L
Morrow, Dustin
Cupp, Julia A
author_facet Dennis, Jasmine L
Morrow, Dustin
Cupp, Julia A
author_sort Dennis, Jasmine L
collection PubMed
description Beta-thalassemia is an autosomal recessive hemoglobinopathy that can result in microcytic hypochromic anemia, splenomegaly, hypercoagulability, and long-term sequelae. Beta-thalassemia intermedia, specifically, is diagnosed based on the moderate severity of illness, which does not carry the early symptomatic urgency of beta-thalassemia major, although patients of both often become chronically or intermittently transfusion-dependent. A presenting symptom may be splenomegaly, which is most efficiently detected with a combination of physical examination and point-of-care ultrasound (POCUS). We present the case of a 25-year-old male patient with no significant past medical history who presented to the emergency department with abdominal discomfort for one week. The history of present illness, review of systems, and physical exam were nonrevealing. An ultrasound was performed to rule out renal colic; however, he was incidentally found to have an enlarged and infarcted spleen. This unexpected discovery warranted a laboratory workup, which indicated beta-thalassemia intermedia. His diagnosis was confirmed with serum protein electrophoresis and he was thereafter followed by hematology. Beta-thalassemia intermedia can present suddenly in adulthood, despite a benign past medical history. Splenomegaly may be a presenting symptom and can be effectively detected with a physical exam plus POCUS. Failure to detect these subtleties can lead to potentially life-threatening conditions such as profound anemia, thromboembolic accidents, pulmonary hypertension, and pathological fractures. This case demonstrates the importance of utilizing POCUS in combination with a physical examination to attain a comprehensive perspective of anatomy, even in those patients fast-tracked in the emergency department.
format Online
Article
Text
id pubmed-7802117
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-78021172021-01-13 Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report Dennis, Jasmine L Morrow, Dustin Cupp, Julia A Cureus Emergency Medicine Beta-thalassemia is an autosomal recessive hemoglobinopathy that can result in microcytic hypochromic anemia, splenomegaly, hypercoagulability, and long-term sequelae. Beta-thalassemia intermedia, specifically, is diagnosed based on the moderate severity of illness, which does not carry the early symptomatic urgency of beta-thalassemia major, although patients of both often become chronically or intermittently transfusion-dependent. A presenting symptom may be splenomegaly, which is most efficiently detected with a combination of physical examination and point-of-care ultrasound (POCUS). We present the case of a 25-year-old male patient with no significant past medical history who presented to the emergency department with abdominal discomfort for one week. The history of present illness, review of systems, and physical exam were nonrevealing. An ultrasound was performed to rule out renal colic; however, he was incidentally found to have an enlarged and infarcted spleen. This unexpected discovery warranted a laboratory workup, which indicated beta-thalassemia intermedia. His diagnosis was confirmed with serum protein electrophoresis and he was thereafter followed by hematology. Beta-thalassemia intermedia can present suddenly in adulthood, despite a benign past medical history. Splenomegaly may be a presenting symptom and can be effectively detected with a physical exam plus POCUS. Failure to detect these subtleties can lead to potentially life-threatening conditions such as profound anemia, thromboembolic accidents, pulmonary hypertension, and pathological fractures. This case demonstrates the importance of utilizing POCUS in combination with a physical examination to attain a comprehensive perspective of anatomy, even in those patients fast-tracked in the emergency department. Cureus 2020-12-13 /pmc/articles/PMC7802117/ /pubmed/33447492 http://dx.doi.org/10.7759/cureus.12063 Text en Copyright © 2020, Dennis et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Emergency Medicine
Dennis, Jasmine L
Morrow, Dustin
Cupp, Julia A
Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report
title Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report
title_full Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report
title_fullStr Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report
title_full_unstemmed Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report
title_short Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report
title_sort incidental diagnosis of adult beta-thalassemia with point-of-care ultrasound in the emergency department: a case report
topic Emergency Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802117/
https://www.ncbi.nlm.nih.gov/pubmed/33447492
http://dx.doi.org/10.7759/cureus.12063
work_keys_str_mv AT dennisjasminel incidentaldiagnosisofadultbetathalassemiawithpointofcareultrasoundintheemergencydepartmentacasereport
AT morrowdustin incidentaldiagnosisofadultbetathalassemiawithpointofcareultrasoundintheemergencydepartmentacasereport
AT cuppjuliaa incidentaldiagnosisofadultbetathalassemiawithpointofcareultrasoundintheemergencydepartmentacasereport