Haemophilia Differential Diagnosis

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Haemophilia Differential Diagnosis

What are the differential diagnosis of hemophilia?

The differential diagnoses for hemophilia B include Ehlers-Danlos Syndrome, factor V, VII, and XI deficiencies, hemophilia A, hemophilia C, platelet disorders, vWD, and dermatofibrosis lenticularis or Buschke Ollendorff syndrome.

Can hemophilia be misdiagnosed?

In most cases, low temperature storage led to much lower results. Taking the lower reference limit as 50%, most would have been defined as “abnormal,” and a misdiagnosis of vWD or hemophilia A could easily arise.

How is haemophilia diagnosed?

Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. Clotting factor tests, also called factor assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity.

What are 5 symptoms of hemophilia?

  • Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work.
  • Many large or deep bruises.
  • Unusual bleeding after vaccinations.
  • Pain, swelling or tightness in your joints.
  • Blood in your urine or stool.
  • Nosebleeds without a known cause.
  • In infants, unexplained irritability.

What is Haemophilia B?

Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.

Is Hemophilia heterozygous or homozygous?

The disease is inherited as an X-linked recessive trait and thus occurs in males and very rarely in homozygous females. Heterozygous females for the disease are known as carriers.

How accurate are hemophilia tests?

Women with the hemophilia A gene will have levels that are lower than normal, and some may even have levels so low they have bleeding issues. Carrier testing has an accuracy rate of up to 79 percent, but carrier testing alone is not enough to determine if a woman is a carrier.

Can von Willebrand disease be misdiagnosed?

von Willebrand disease (VWD) is the most common inherited bleeding disorder. Despite this, VWD is one of the most commonly misdiagnosed or overlooked entities in everyday clinical practice.

What is PT aPTT test?

What is this test? The aPTT is one of several blood coagulation tests. It measures how long it takes your blood to form a clot. Normally, when one of your blood vessels is damaged, proteins in your blood called clotting factors come together in a certain order to form blood clots and quickly stop bleeding.

What are the 3 types of hemophilia?

The three main forms of hemophilia include the following:
  • Hemophilia A: Caused by a lack of the blood clotting factor VIII; approximately 85% of hemophiliacs have type A disease.
  • Hemophilia B: Caused by a deficiency of factor IX.
  • Hemophilia C: Some doctors use this term to refer to a lack of clotting factor XI.

What is VWF disease?

Von Willebrand disease (VWD) is a blood disorder in which the blood does not clot properly. Blood contains many proteins that help the blood clot when needed. One of these proteins is called von Willebrand factor (VWF).

What are the three symptoms of haemophilia?

Common signs of hemophilia include:
  • Bleeding into the joints. …
  • Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).
  • Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.

What is the most common cause of hemophilia?

The primary cause of all types of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. Clotting factors help the blood form clots that seal up wounds. For both hemophilia A and B, about two-thirds of the mutations come from a parent.

What vitamin deficiency causes clots?

Vitamin K deficiency is not common in adults, but can be serious because it stops the blood clotting properly. It can also make bones weaker, and increase a person’s chances of breaking them.

What is factor VIII in hemophilia?

Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein. Although it is passed down from parents to children, about 1/3 of cases found have no previous family history.

What is Haemophilia C?

Haemophilia C is an autosomal retreating disorder that shows bleeding symptoms because of the deficiency of factor XI. The disease may be inherited if both the parents carry the imperfect gene. People have bleeding complications when one parent has the genetic defect that causes Factor XI Deficiency.

How do you test for hemophilia B?

To determine if an individual has hemophilia B, specialized blood coagulation tests are used that measure how long it takes the blood to clot. The initial test is the activated partial thromboplastin time (aPTT).

What mutation causes hemophilia?

Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop.

How often do hemophiliacs need treatment?

Severe hemophiliaYou usually need replacement therapy to prevent bleeding that could damage your joints, muscles, or other parts of your body. Typically, replacement therapy is given at home two or three times a week.

What chromosome carries hemophilia?

Hemophilia is a sex-linked recessive disorder. The abnormal gene responsible for hemophilia is carried on the X chromosome. Males have one X chromosome and one Y chromosome.

What are the three severity levels of hemophilia A?

How is the severity of hemophilia A classified?
  • Severe hemophilia – FVIII level less than 1% of normal (< 0.01 IU/mL)
  • Moderate hemophilia – FVIII level 1-5% of normal (0.01-0.05 IU/mL)
  • Mild hemophilia – FVIII level more than 5% but less than 40% of normal (>0.05 to < 0.40 IU/mL)

Why bleeding time is normal in hemophilia?

11, 12 The bleeding time is said to be normal in hemophilia because platelet adhesion and aggregation in response to ADP are normal, and because the mechanism that is initiated by tissue factor in the absence of factor VIII coagulant activity can apparently generate enough thrombin to stop bleeding from the small …

What is a normal factor 8 level?

Normal ranges for factor VIII levels are 50% to 150%. If your factor VIII activity level is less than 50%, you may have hemophilia A, but how severe your risk of bleeding is depends on what percentage you have.

What is the difference between haemophilia and von Willebrand disease?

Factor VIII is involved in another inherited clotting disorder called hemophilia. But unlike hemophilia, which mainly affects males, von Willebrand disease affects males and females and is usually milder.

What are the 3 types of von Willebrand disease?

There are three main types of VWD (VWD type 1, VWD type 2, and VWD type 3) each with differing degrees of severity and inheritance patterns. Unlike hemophilia which is characterized by joint bleeding, VWD is typically characterized by mucocutaneous bleeding.

What is VWF binding?

VWF binds to a protein complex made up of the glycoproteins Ib, IX, and V on the surfaces of platelets. The binding of VWF to this complex facilitates the activation and aggregation of platelets and the interaction of platelets with components such as collagen in the damaged vessel lining.

What is D dimer test in medical?

A D-dimer test is used to find out if you have a blood clotting disorder. These disorders include: Deep vein thrombosis (DVT), a blood clot that’s deep inside a vein. These clots usually affect the lower legs, but they can also happen in other parts of the body.

What is the difference between INR and aPTT?

Results and conclusions: The PT/INR and aPTT showed comparable sensitivity for single or multiple factor deficiencies in artificially deficient plasmas, but the PT/INR was more sensitive than the aPTT to low coagulation factor levels in actual trauma patients (sensitivity 84% versus 50%).

What is difference between PTT and aPTT?

Partial thromboplastin time (PTT) and activated partial thromboplastin time (aPTT) are used to test for the same functions; however, in aPTT, an activator is added that speeds up the clotting time and results in a narrower reference range.

What are the 2 deficient factors in hemophilia?

Hemophilia A, B & C: The Three Different Clotting Factor Deficiencies. The two most common types of hemophilia are factor VIII deficiency (hemophilia A) and factor IX deficiency (hemophilia B, or Christmas disease).

What deficiency causes hemophilia?

Having too little of factors VIII (8) or IX (9) is what causes hemophilia. A person with hemophilia will lack only one factor, either factor VIII or factor IX, but not both. There are two major kinds of hemophilia: hemophilia A, which is a factor VIII deficiency; and hemophilia B, which is a factor IX deficiency.

Why is hemophilia B called Christmas disease?

Hemophilia B is also known as Christmas disease. It is named after the first person to be diagnosed with the disorder in 1952, Stephen Christmas. As the second most common type of hemophilia, it occurs in about 1 in 25,000 male births and affects about 4,000 individuals in the United States.

How is Bernard Soulier syndrome diagnosed?

The diagnosis of Bernard-Soulier syndrome is made by a combination of blood testing to reveal whether platelets are at abnormally low levels (thrombocytopenia), microscopic examination to determine the presence of abnormally large platelets and irregularly shaped platelets, and a test called ‘flow cytometry, which is …

What is high von Willebrand factor?

Von Willebrand factor (VWF) is a plasma glycoprotein that acts as carrier for factor VIII. Elevated levels of VWF are associated with elevated coagulation factor VIII levels. An increased VWF level in plasma is found to be associated with VTE [4, 5, 11, 13].

What is mucocutaneous bleeding?

Mucocutaneous hemorrhage are typically characterized by spontaneous or slightly traumatic bleeding resulting from the coagulopathies and hemostatic disorders, which means that circulating blood infiltrating into the skin or submucosal tissue from the capillaries.

What body system does hemophilia affect?

Hemophilia is a disease that causes problems with blood clotting. It makes people’s blood clot (coagulate) much more slowly than usual. This means that wounds take longer to heal. When blood doesn’t clot properly, it can lead to bleeding inside the body too for instance, following a fall or a crush injury.

What is the main treatment for hemophilia?

The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein. This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes.

What is the life expectancy of someone with hemophilia?

Estimated median life expectancy of patients with hemophilia was 77 years, 6 years lower than the median life expectancy of the general Dutch male population (83 years).

Is hemophilia A curable?

There is currently no cure for hemophilia, a rare bleeding disorder.

Can hemophilia cause anemia?

Little attention has previously been directed to parameters of erythropoiesis in hemophiliacs even though anemia might be expected as a result of internal and occult external hemorrhage and impaired iron reutilization.

What foods to avoid if you have hemophilia?

Food and supplements to avoid
  • large glasses of juice.
  • soft drinks, energy drinks, and sweetened tea.
  • heavy gravies and sauces.
  • butter, shortening, or lard.
  • full-fat dairy products.
  • candy.
  • foods containing trans fats, including fried. foods and baked goods (pastries, pizza, pie, cookies, and crackers)

Can vitamin D cause blood clots?

Vitamin D has been shown to have an anticoagulant effect. A decrease in 25-hydroxyvitamin D [25(OH)D] concentration has also been associated with an increased risk of venous thromboembolism.

Can you take vitamin D with blood thinners?

Vitamin D does not interact with your Coumadin. Your INR level (blood thinning level) may be affected by many different things, including the amount of vitamin K in your diet or multivitamins.

What are the symptoms of a vitamin K deficiency?

The main symptom of vitamin K deficiency is bleeding (hemorrhage)into the skin (causing bruises), from the nose, from a wound, in the stomach, or in the intestine. Sometimes bleeding in the stomach causes vomiting with blood. Blood may be seen in the urine or stool, or stools may be tarry black.

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