A delayed diagnosis: recurrent fever and beta thalassaemia.

Authors:
Michael Samarkos
Michael Samarkos
Evangelismos Hospital
Greece
Marina Mantzourani
Marina Mantzourani
Laikon General Hospital
Greece
Christina Nika
Christina Nika
Hellenic Red Cross Hospital

BMJ Case Rep 2018 Sep 30;2018. Epub 2018 Sep 30.

1st Department of Medicine, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2018-225802DOI Listing
September 2018
10 Reads

Publication Analysis

Top Keywords

familial mediterranean
12
mediterranean fever
12
intermedia presented
4
recurrent fevers
4
beta-thalassaemia intermedia
4
presented recurrent
4
describe patient
4
distribution common
4
common autoinflammatory
4
autoinflammatory disorder
4
haemoglobinopathy describe
4
patient beta-thalassaemia
4
fevers diagnosed
4
biases lead
4
cognitive biases
4
lead delay
4
delay diagnosis
4
diagnosis familial
4
disorders cognitive
4
association disorders
4

Similar Publications