Date Published: November 14, 2011
Publisher: BioMed Central
Author(s): P Bégin, M Picard, J Paradis, L Paradis, G Leclerc.
Cryofibrinogenemia is a rare disorder that refers to the presence of cold-precipitable proteins in plasma but, unlike cryoglobulinemia, not in serum. It can manifest as vascular occlusion in cold exposed areas. It is most often secondary to various inflammatory disorders, infections or malignancy, but cases of true essential cryofibrinogenemia have been described. To the best of our knowledge only three reports involving families have been published to date, each involving at most three patients.
Two apparently unrelated patients presented with painful lesions involving cold-exposed areas that would appear every fall and disappear every spring since childhood. Examination revealed ulcers, livedoid and purple-blue discolorations with crusts and scar tissues involving ears, hips, knees, fingers and toes. Immune and inflammatory workup was unremarkable in both patients except for the presence of cryofibrinogen. Treatment with stanozol and dextran was attempted but symptoms returned during winter season.
We report a large cohort of familial essential cryofibrinogenemia originating from the Magdalen Islands. Genetic association studies will be necessary to identify the causal gene.