Cryofibrinogenemia

Cryofibrinogenemia
Classification and external resources
OMIM 123540

Cryofibrinogenemia refers to a condition in which the chilling of an individual's blood plasma from the normal body temperature of 37 °C to the near-freezing temperature of 4 °C causes the reversible precipitation of a complex containing fibrinogen, fibrin, fibronectin, and, occasionally, small amounts of fibrin split products, albumin, immunoglobulins and other plasma proteins. Returning this plasma to 37 °C resolubilizes the precipitate.[1][2] Cryofibrinogenmia may occur as a laboratory finding in individuals that have no evidence of precipitate-induced tissue damage (i.e. asymptomatic cryofibrinogenemia) or in individuals suffering serious consequences of cryofibrinogen precipitation, particularly pathological blood clots in small and medium size arteries and veins plus, although less commonly, pathological bleeding. The pathological clotting/bleeding disease is commonly grouped with the asymptomatic condition in the term cryofibrinogenmia but is here termed cryofibrongemic disease for clarity purposes. When occurring in association with another serious disease, cryofibrinogenmic disease is referred as secondary cryofibrinogenmia; in the absence of such an association, it is referred to as primary cryofibrinogenmia.[2]

Cryofibrinogen precipitation

The reasons for the cold temperature-induced in vitro as well as the in vivo precipitation of the fibrinogen-containing complex is unknown. The fibrinogen involved in precipitate formation appears to have a normal structure. This separates cryofibrinogenemia from two pathological blood-clotting/bleeding diseases that can mimic cryofibrinogenemia but are due to structurally abnormal fibrinogen viz., dysfibrinogenemia and hypodysfibrinogenemia.[3][4] Based on in vitro studies, three causes have been hypothesized for the precipitate formed in cryofibrinogenemia. 1) The blood and plasma of individuals with cryofibrinogenemia lack the fibrinolysis activity that normally degrades and thereby resolubilizes the precipitate. This hypothesis is based on the findings that some but not all individuals with the disorder have abnormally high levels of one or two of the agents, alpha-1 antitrypsin and alpha-2-macroglobulin, which inhibit the naturally occurring fibrinolytic agent, plasmin. 2) The blood of individuals has an increased ability of the pro-coagulant thrombin to bind fibrinogen and thereby promote coagulation. 3) The blood of individuals, particularly those with cryofibriognemic disease associated with other severe disorders, has high levels of immunological elements such as immunoglobulins or immune complexes that interact with fibronectin to promote blood clotting. This hypothesis is base on findings that some patients with cyrofibrinogenemic disease improve when treated with immunosuppressive drugs.[5] Further basic research into this area is required.

Asymptomatic cryofibrinogenemia

The occurrence of cryofibrinogenemia as defined by a 4 °C-induced formation of fibrinogen-based precipitation in plasma occurs in 2% to 9% of asymptomatic individuals and 8% to 13% of hospitalized patients without symptoms attributable to this precipitation. Most of these cases have relatively low levels of cold temperature-induced fibrinogen precipitate levels (<50 milligram/liter of fibrinogen).[2]

See also

References

  1. ↑ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.:822
  2. 1 2 3 Grada A, Falanga V (2017). "Cryofibrinogenemia-Induced Cutaneous Ulcers: A Review and Diagnostic Criteria". American Journal of Clinical Dermatology. 18 (1): 97–104. PMID 27734332. doi:10.1007/s40257-016-0228-y.
  3. ↑ Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P (2017). "Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation". Journal of Thrombosis and Haemostasis : JTH. 15 (5): 876–888. PMID 28211264. doi:10.1111/jth.13655.
  4. ↑ Casini A, Sokollik C, Lukowski SW, Lurz E, Rieubland C, de Moerloose P, Neerman-Arbez M (2015). "Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature". Haemophilia : the Official Journal of the World Federation of Hemophilia. 21 (6): 820–7. doi:10.1111/hae.12719.
  5. ↑ Michaud M, Pourrat J (2013). "Cryofibrinogenemia". Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases. 19 (3): 142–8. PMID 23519183. doi:10.1097/RHU.0b013e318289e06e.

Further reading

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