Τίτλος:
A delayed diagnosis: Recurrent fever and beta thalassaemia
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © BMJ Publishing Group Limited 2018.
Συγγραφείς:
Samarkos, M.
Mantzourani, M.
Nika, C.
Kalotychou, V.
Περιοδικό:
BMJ Case Reports
Εκδότης:
BMJ Publishing Group
Λέξεις-κλειδιά:
colchicine; gallium; Gallium-67; tubulin modulator, adult; beta thalassemia; Borrelia infection; case report; complication; differential diagnosis; familial Mediterranean fever; genetics; genotype; human; male; mutation; treatment outcome, Adult; beta-Thalassemia; Colchicine; Diagnosis, Differential; Familial Mediterranean Fever; Gallium Radioisotopes; Genotype; Humans; Male; Mutation; Relapsing Fever; Treatment Outcome; Tubulin Modulators
DOI:
10.1136/bcr-2018-225802
