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Orsucci et al. Neuroimmunol Neuroinflammation 2018;5:6 Neuroimmunology and
DOI: 10.20517/2347-8659.2017.66 Neuroinflammation

Case Report Open Access

Hypodysfibrinogenemia in a young patient with
recurrent strokes

Daniele Orsucci , Stefania Salvetti , Marco Margelli , Michele Puglioli , Marco Vista , Monica Mazzoni 1
3
2
1
1
1
1 Unit of Neurology, San Luca Hospital, Lucca 55100, Italy.
2 Unit of Transfusional Medici-ne and Immunohematology, San Luca Hospital, Lucca 55100, Italy.
3 Unit of Neuroradiology, University Hospital of Pisa, Pisa 56100, Italy.
Correspondence to: Dr. Daniele Orsucci, Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, Lucca 55100, Italy.
E-mail: orsuccid@gmail.com
How to cite this article: Orsucci D, Salvetti S, Margelli M, Puglioli M, Vista M, Mazzoni M. Hypodysfibrinogenemia in a young
patient with recurrent strokes. Neuroimmunol Neuroinflammation 2018;5:6. http://dx.doi.org/10.20517/2347-8659.2017.66

Received: 23 Dec 2017 Frist Decision: 6 Feb 2018 Revised: 11 Feb 2018 Accepted: 12 Feb 2018 Published: 7 Mar 2018
Science Editor: Athanassios P. Kyritsis Copy Editor: Jun-Yao Li Production Editor: Huan-Liang Wu

Abstract
Stroke is a complex disease, but in some instances is the direct result of a monogenic disease. Here we report the case
of a 44-year-old Italian man who experienced recurrent transitory ischemic attacks and strokes. He also had right fetal-
type posterior cerebral artery. He was diagnosed with congenital hypodysfibrinogenemia due to a mutation leading
to a truncated fibrinogen gamma chain. Further studies are needed to better elucidate the links between fibrinogen
dysfunction and stroke. Hypodysfibrinogenemia should be included among the monogenic diseases associated with
ischemic stroke. Physicians should be aware of this condition, which may be detectable on routine assays.

Keywords: Coagulation, dysfibrinogenemia, fibrinogen, genetics, ischemic stroke, monogenic

INTRODUCTION
Stroke is a complex disease resulting from the interplay of genetics and environment. In some instances
stroke is the direct result of a monogenic disease, mainly in young adults. Here we report the case of a
44-year-old Italian man who experienced recurrent transitory ischemic attacks (TIAs) and strokes from
the age of 38 years. At last, he was diagnosed with congenital hypodysfibrinogenemia due to a mutation
leading to a severely truncated fibrinogen gamma chain.

CASE REPORT
Our patient presented at 38 years with recurrent TIAs (~1/month), characterized by sensory disturbances

© The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0
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