The differential diagnosis includes dysfibrinogenemia, prothrombin deficiency, factor v deficiency, combined deficiency of factors v and viii f5f8d, factor x deficiency, and hereditary combined deficiency of the vitamin kdependent clotting factors. Therapy with replacement factors and the development of inhibitors are discussed separately. Differential diagnosis patients with isolated hemophilia a, b. Practice guidelines for the molecular diagnosis of. Testing for hemophilia should be performed at a highly experienced specialized coagulation laboratory. If the distribution differs markedly from that shown in figure 8. This blood test shows the type of hemophilia and the severity. Pipettes should preferably be accurate within signifi cantly less than 10%.
Hemophilia refers to a group of disorders that affect the bloods clotting ability or coagulation. Diagnosis and management of hemophilia and other bleeding disorders are discussed separately. Hemophilia a is seen in about one in every 4,000 t0 5,000 males worldwide, compared to hemophilia b, which is. Sometimes, bleeding disorders can be caused by other health problems or medicines you take. Pdf acquired hemophilia a simulating retropharyngeal. These are xlinked bleeding disorders that predominantly affect males. Which conditions should be included in the differential diagnosis of hemophilia a. Occasionally, female carriers of hemophilia will have bleeding symptoms.
A doctor might check for hemophilia if a newborn is showing certain signs of hemophilia. Clinical definitions related to this topic include. Pdf a 24yearold man with previously diagnosed hemophilia. The age of diagnosis and frequency of bleeding episodes are related to the level of factor ix clotting activity. Without it, you may bleed for a long time after an injury or accident. The diagnosis of hemophilia b is established by determination of low factor ix clotting activity.
Hemophilia testing algorithm is activity still decreased. Differential diagnosis for this inherited condition is the following hemophilia a, factor xi deficiency. Hemophilia a, where coagulation factor viii is missing, accounts for 80% of cases. Acquired hemophilia presenting as profound hematuria. Clinical differentiation of severe hemophilia a from severe hemophilia b is almost impossible, but specific factor assays can help with the distinction. Differential diagnosis rare coagulation disorders rare. An individual who presents with a history of abnormal bleeding may have an inherited or an acquired bleeding disorder. Differential diagnosis of nontraumatic purpura in the elderly have you considered acquired hemophilia. Abnormal vaginal bleeding can be menstrual related e. Accurate diagnosis is essential for the optimal management of hemophilia.
Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of certain proteins called clotting factors and the blood doesnt clot properly as a result. Diagnosis is based on patient history and a mix of semiquantitative and quantitative measurements of clotting factor activity. It is estimated that 400,000 people are diagnosed with hemophilia worldwide, which indicates that this disease is a rare hereditary disease. If a carrier already has a brother or son with hemophilia and the results from prenatal diagnosis show that the baby is a boy and has hemophilia, she may feel ambivalent about stopping a pregnancy, as she dearly loves her son or brother. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. Child abuse it is typical to find inconsistency in the.
See treatment of hemophilia and factor viii and factor ix inhibitors in patients with hemophilia. Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. Autoimmune disorders occur when the bodys immune system mistakenly attacks healthy cells or tissue. Hemophilia can affect any race, nationality or social class. Clotting factor is a protein needed for normal blood clotting. The genetics of hemophilia has implications for disease severity, inhibitor development, and preconception testing and counseling.
Hemophilia a diagnosis if the activity assays are normal, consider an alternate bleeding disorder. Importance of differential diagnosis of neck masses before surgery. The diagnosis of hemophilia a is made through clinical symptoms and specific laboratory tests to measure the amount of clotting factors in the blood. In a significant number of cases, the disorder results from a new mutation or an acquired immunologic process. All of these conditions feature prolongation of both the pt and the aptt. The frequently used convention is that the reference or normal range should include the central 95% of values. The mission of cdcs division of blood disorders is to reduce the. Additionally, a comprehensive and uptodate information on the clinical and laboratory features for the diagnosis of hemophilia is also presented. Potential psychosocial issues at prenatal diagnosis. The latter is often also characterized by a reduced fviii level, but in addition there may be a prolonged bleeding time, a prolonged. Clotting factor tests, also called factor assays, are required to diagnose a bleeding disorder. Albld bleeding diathesis profile, limited, plasma vitamin k antagonist ie, warfarin childadolescent. Diagnosis of hemophilia and other bleeding disorders.
Laboratories that do not frequently perform these specialized tests may not be able to accurately establish a diagnosis. Hemophilia a differential diagnoses medscape reference. There are types of clotting factors, and these work with platelets to help the blood clot. Case studies submitted are evaluated by the members of the nwg based on their relevance to the stated topic, medical accuracy, applicability to hemophilia nursing practice, complexity of the. Guidelines prepared by steve keeney, mike mitchell and anne goodeve on behalf of the uk haemophilia centre doctors organisation ukhcdo, the haemophilia genetics laboratory network and the clinical molecular genetics society.
Screening tests are blood tests that show if the blood is clotting properly. Diagnosis of hemophilia and other bleeding disorders world. Other issues related to care for people with hemophilia are presented separately. One useful way of classifying abnormal vaginal bleeding is by age. Routine care including prophylaxis see hemophilia a and b. Occurs almost exclusively in males due to an xlinked pattern of inheritance. Hemophilia is a rare disorder in which the blood does not clot normally. Hemophilia a ha and hemophilia b hb are both xliked recessive bleeding disorders caused by genetic defects found in the human coagulation factor viii f8 and ix f9 genes, respectively. In the other cases in this study the diagnosis was made after one or several bleeding episodes and at a mean age of 5. Children with haemophilia can have all the normal immunisations at the usual age. Classical hemophilia, hemophilia a, is estimated to account for 85% of all cases. Wfh network wfh usa wfh usa advances the global mission of the wfh in the united states. A time limitation for the publication beyond 1995 and publication in the english language were considered.
If you have a family history of hemophilia and are pregnant, tests can tell if your baby has the disease. Hemophilia knowledge for medical students and physicians. Factor viii deficiency hemophilia a pathology outlines. Hemophilia is a bleeding disorder that slows the blood clotting process. There are risks though, so youll want to talk to your. About onethird of babies who are diagnosed with hemophilia have no other family members with the disorder. Diagnosis includes screening tests and clotting factor tests. A definitive diagnosis depends on factor assay to demonstrate deficiency of fviii or fix. Clinical manifestations and diagnosis of hemophilia med. Please use one of the following formats to cite this article in your essay, paper or report. The aim of this article is to provide an overview of the evaluation, differential diagnosis, and management of acquired hemophilia for the emergency physician.
Your liver makes most of the blood clotting factors proteins in the blood you need. Haemophilia centre can advise on haemophilia issues during these normal childhood stages. A bleeding disorder, usually inherited, characterized by the deficiency of coagulation factor viii or ix. Haemophilia is a sexlinked bleeding disorder caused by deficiency or absence of coagulation factors viii or ix. If you have hemophilia, you have little or no clotting factor. Differential diagnosis is achieved using blood tests, which reveal a reduced platelet count and an absence of factor viii autoantibodies. Treatment of hemophilia a and b marianne mcdaniel, rn introduction treatment for patients with hemophilia and other bleeding disorders has evolved over the past several decades. If a pipette is inaccurate beyond the following limits mean weight, it must be taken out of use immediately. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury.
Acquired hemophilia a simulating retropharyngeal abscess. Differential diagnosis of nontraumatic purpura in the. Practice guidelines for the molecular diagnosis of haemophilia a. Approximately 30% of heterozygous females have a factor ix clotting activity below 40%, regardless of the severity of hemophilia b in their family. Hemophilia testing algorithm mayo medical laboratories. Hemophilia a genetic and rare diseases information. Hemophilia b is characterized by deficiency in factor ix clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. Hemophilia genetic and rare diseases information center. Evaluation of vaginal bleeding differential diagnosis of. It is a hereditary disorder of haemostasis that occurs in one in 5000 men prevalence of 10 in 100 000 people and is caused by a deficiency of clotting factor viii in haemophilia a or factor ix in haemophilia b as a result of defects in the f8 and. Which conditions should be included in the differential. Replacement of the specific missing plasma protein is necessary for hemostasis to occur. Pdf a 24yearold middle eastern man diagnosed with hemophilia at. Hemophilia a is an inherited, xlinked, recessive disorder caused by deficiency of functional plasma clotting factor viii fviii.