Спадкова тромбофілія внаслідок вродженого дефіциту глікопротеїнів, багатих на гістидин (полі-L)
ORPHA:217467· ICD-10 D68.5· Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Визначення(English summary)
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.
- Успадкування
- Autosomal dominant