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Bleeds can also occur in the skin, mouth, nose and genitourinary tract. Women often experience severe menorrhagia, long, heavy periods. Testing Diagnosis is made through activated partial thromboplastin time (aPTT) test and prothrombin time (PT) test. Diagnosis can be confirmed with a FVII assay. Acquired factor VII deficiency can occur in patients with liver disease and vitamin K deficiency, and in those taking oral anticoagulants. Treatment The main treatment for FVII deficiency is recombinant factor VIIa (rFVIIa). Prothrombin complex concentrates (PCCs) can also be used, but the amount of factor VII they contain can vary considerably. Fresh frozen plasma (FFP) is another option. In some patients, the use of FFP has led to blood clots.
A doctor might check for hemophilia in a newborn if: Bleeding after circumcision of the penis goes on for a long time. Bleeding goes on for a long time after drawing blood and heel sticks (pricking the infant's heel to draw blood for newborn screening tests). Bleeding in the head (scalp or brain) after a difficult delivery or after using special devices or instruments to help deliver the baby (e. g., vacuum or forceps). Unusual raised bruises or large numbers of bruises. If a child is not diagnosed with hemophilia during the newborn period, the family might notice unusual bruising once the child begins standing or crawling. Those with severe hemophilia can have serious bleeding problems right away. Thus, they often are diagnosed during the first year of life. People with milder forms of hemophilia might not be diagnosed until later in life. Screening Tests Screening tests are blood tests that show if the blood is clotting properly. Types of screening tests: Complete Blood Count (CBC) This common test measures the amount of hemoglobin (the red pigment inside red blood cells that carries oxygen), the size and number of red blood cells and numbers of different types of white blood cells and platelets found in blood.
National Organization of Rare Diseases (NORD). 2015. Retrieved February 18, 2017. ^ "What is factor VII deficiency? ". World Federation of Hemophilia (WFH). 2012. Retrieved February 18, 2017. ^ "Factor VII deficiency". Medline Plus. Retrieved February 18, 2017. ^ M. Constandoulakis (1958). "Familia Haemophilia an Factor VII Deficiency". J Clin Pathol. 11 (5): 412–416. 1136/jcp. 11. 5. 412. PMC 479808. PMID 13575557. External links This page was last edited on 2 January 2021, at 00:26
Hematuria may occur. [ citation needed] While in congenital disease symptoms may be present at birth or show up later, in patients with acquired FVII deficiency symptoms typically show up in later life. About 3-4% of patients with FVII deficiency may also experience thrombotic episodes. [2] Causes Inherited or congenital FVII deficiency is passed on by autosomal recessive inheritance. [1] A person needs to inherit a defective gene from both parents. People who have only one defective gene do not exhibit the disease, but can pass the gene on to half their offspring. Different genetic mutations have been described. [1] In persons with the congenital FVII deficiency the condition is lifelong. People with this condition should alert other family members may they also have the condition or carry the gene. In the general population the condition affects about 1 in 300, 000 to 500, 000 people. [3] However, the prevalence may be higher as not all individuals may express the disease and be diagnosed.
For this reason, most people with hemophilia A are male. If a woman has a defective factor VIII gene, she is considered a carrier. This means the defective gene can be passed down to her children. Boys born to such women have a 50% chance of having hemophilia A. Their daughters have a 50% chance of being a carrier. All female children of men with hemophilia carry the defective gene. Risk factors for hemophilia A include: Family history of bleeding Being male Severity of symptoms vary. Prolonged bleeding is the main symptom. It is often first seen when an infant is circumcised. Other bleeding problems usually show up when the infant starts crawling and walking. Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury. Internal bleeding may occur anywhere. Symptoms can include: Bleeding into joints with associated pain and swelling Blood in the urine or stool Bruising Gastrointestinal tract and urinary tract bleeding Nosebleeds Prolonged bleeding from cuts, tooth extraction, and surgery Bleeding that starts without cause If you are the first person in the family to have a suspected bleeding disorder, your health care provider will order a series of tests called a coagulation study.
The CBC is normal in people with hemophilia. However, if a person with hemophilia has unusually heavy bleeding or bleeds for a long time, the hemoglobin and the red blood cell count can be low. Activated Partial Thromboplastin Time (APTT) Test This test measures how long it takes for blood to clot. It measures the clotting ability of factors VIII (8), IX (9), XI (11), and XII (12). If any of these clotting factors are too low, it takes longer than normal for the blood to clot. The results of this test will show a longer clotting time among people with hemophilia A or B. Prothrombin Time (PT) Test This test also measures the time it takes for blood to clot. It measures primarily the clotting ability of factors I (1), II (2), V (5), VII (7), and X (10). If any of these factors are too low, it takes longer than normal for the blood to clot. The results of this test will be normal among most people with hemophilia A and B. Fibrinogen Test This test also helps doctors assess a patient's ability to form a blood clot.