Cryofibrinogenaemia-a neglected disease

Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. Cryofibrinogenaemia (CF) can be detected both in healthy persons and patients with autoimmune diseases, cancer and infections. Essential CF is frequently asymptomatic, although in a proportion of patients it is associated with skin lesions and systemic manifestations and can lead to refractory skin ulcers and gangrene or thrombotic events. Identification of CF in plasma is simple, but establishing a definite diagnosis may be a challenge due to a lack of accepted diagnostic criteria. Several treatment options have been suggested for patients with symptomatic CF, although their efficacy has been shown only in uncontrolled series or case reports. A variety of possible approaches to drug treatment poses additional problems for the physician. Treatment for secondary CF usually relies on effective management of the underlying disease. The clinical significance of CF and its true prevalence are apparently underestimated and should be further studied.