Hereditary deficiency of factor IX ( the Stewart prauera disease)

August 12, 2017 17:51 | Genetic Diseases

disease Stewart-Prauera - a rare disease, which is transmitted by an incomplete autosomal recessive inheritance type.

possible as very severe, and the lungs and hidden variety.In very severe bleeding disease appear in early childhood, often at birth or in the first months of life, and usually quickly lead to death.The immediate cause of death are bleeding under the periosteum of the skull bones, repetitive brain hemorrhage and massive gastrointestinal bleeding.In severe forms of bleeding diseases occur later and do not lead to death.Often there are hemorrhages in the skin, subcutaneous hematoma, abundant and long nasal and gingival bleeding, and especially strong uterine and menstrual bleeding.Surgical intervention (by removing the teeth to open surgery), childbirth and abortion are accompanied by massive, life-threatening bleeding.Intramuscular bleeding and bleeding into joints are extremely rare.In moderate disease are most pronounced uterine, nasal and gingival bleeding, bleeding in the skin, bleedin

g from injuries and operations.Mild makes no such pronounced manifestations, but still often occur uterine bleeding, bleeding during childbirth and surgical procedures.Periodically there and "unreasonable" nosebleeds.Lung disease has long light intervals without any signs of increased bleeding.

Treatment of disease-Prauera Stewart carried the same blood products as replacement therapy factor VI clotting deficiency.

When uterine bleeding sometimes used synthetic hormonal contraceptives (infekundin, mestranol, and others.) 3-4 tablets in the first 2-3 days of the menstrual cycle, followed by reduction of the dose to 1 tablet a day.When using these drugs need to control blood condition.

Locally with nosebleeds, bleeding from the tooth holes using thrombin hemostatic sponge cooled 5 to 10% solution of e-aminocaproic acid and other topical agents that promote blood clotting.