Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

What is Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency?

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.

Other condition names

  • Hereditary thrombophilia due to congenital HRG deficiency

Inheritance type

Autosomal dominant

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