Familial Primary Cryofibrinogenemia

A 50-year-old woman presented with a history of painful lesions involving cold-exposed areas of skin, a condition that had worsened every fall and disappeared every spring since childhood. The physical examination revealed ulcers, livedo, and bluish-purple discolorations with crusts and scar tissue on the ears (Panel A), hips, knees, fingers, and toes (Panel B). Many other members of the patient's family reported having similar symptoms. Laboratory evaluation showed a plasma cryofibrinogen level of 850 mg per liter. Cryofibrinogenemia is diagnosed when plasma that is clear at 37°C (Panel C) develops a precipitate when it is cooled to 4°C (Panel D). . . .