Hemophilia Legal Definition
Health care providers are also often challenged when hemophilia patients have suspected signs and symptoms of internal bleeding. It is crucial that the healthcare team assesses them and orders timely testing to rule out life-threatening bleeding such as intracranial bleeding or abdominal bleeding. If patients have an altered mental state, confusion, cognitive dysfunction or multiple falls, a CT scan of the head or MRI of the brain is ordered to rule out intracranial hemorrhage, this factor is crucial, especially in newborns, infants and infancy, as these patients may not be able to provide a detailed medical history. Sometimes adults with hemophilia may experience unusual symptoms such as cognitive dysfunction due to frequent but silent brain microhemorrhages and require an MRI of the brain to assess these microhemorrhages. [18] [19] Patients with recurrent joint hemorrhage may benefit from point-of-care joint ultrasound to monitor the progression of hemophilia arthropathies. [20] Abdominal or chest bleeding may be examined by CT or MRI of the chest and abdomen. [21] Any hemophilia patient with a severe acute bleeding episode should be promptly recognized for the location and severity of the bleeding; thereafter, immediate replacement should be carried out with concentrates with high doses of coagulation factor (CFC) with factor VIII or IX. Doses of concentrated factor should be 50 IU/kg body weight factor VIII or 100 to 120 IU/kg factor IX. If factor IX concentrate is not available, 70 to 80 IU/kg of prothrombin complex concentrate can be infused. Some patients may require surgery or urgent intervention for intracranial hemorrhage, airway impairment due to a hematoma of the throat or neck, bulky abdominal or chest hemorrhage, or compartment syndrome with significant muscle hematomas. However, replacement with high-dose CFCs should be performed first or concurrently with a planned operation or procedure, unless a patient requires cardiopulmonary resuscitation (CPR), where CPR replaces high-dose CFC replacement. 1. Desmopressin (DDAVP) – Desmopressin is a synthetic analogue of vasopressin.
It works by increasing endogenous plasma concentrations of factor VIII by 3 to 5 times by inducing the release of von Willebrand factor (VWF). It is useful in treating patients with mild or moderate hemophilia A instead of using a factor concentrate, thereby reducing costs and reducing the risk of developing inhibitors. It is mainly useful in the prevention or treatment of bleeding in patients with hemophilia. It has no value in hemophilia B because it does not affect factor IX. Desmopressin is much cheaper than factor concentrates and carries no risk of transmitting viral infections. It can be administered subcutaneously, which is the most common route of administration, but can also be administered intravenously and intranasally. It should be avoided in preeclampsia and eclampsia, as these patients already have a high von Willebrand factor. Due to its antidiuretic property, hyponatremia and water retention may also occur. Therefore, its use is contraindicated in children under two years of age, who are at risk of developing seizures due to cerebral edema resulting from fluid retention, and should also be used with caution in adults with a history of congestive heart failure or cardiovascular disease.
[29] [30] According to the U.S. Centers for Disease Control and Prevention (CDC), hemophilia occurs in approximately 1 in 5,617 live male births. There are between 30,000 and 33,000 men with hemophilia in the United States*. More than half of people diagnosed with hemophilia A have the severe form. Hemophilia A is four times more common than hemophilia B. Hemophilia affects all racial and ethnic groups. Treatment of acute bleeding episodes in patients with inhibitors begins as soon as possible with consultation with the hemophilia centre. Some treatment modalities include, but are not limited to, a higher dose of factor, porcine factor VIII, activated recombinant factor VII concentrates and prothrombin factor complexes. Eradication of inhibitors in a patient with hemophilia A is also possible by induction of immunotolerance. [14] So far, induction of immune tolerance has proven to be a proven therapy for inhibitor eradication. This protocol involves repeated and frequent infusions of factor VIII. Patients receiving immunotolerance therapy typically receive daily doses of factor concentrate for weeks or even years in some cases.
Some patients may also receive immunosuppressive drugs during treatment, which can make them more susceptible to infections. The goal of this therapy is to ensure that the body tolerates factor infusions and does not trigger an immune response by downregulating an already established antibody response. Induction of immune tolerance can eliminate inhibitors in approximately 70% of patients with hemophilia A and 30% of patients with hemophilia B. [50] Another promising therapy is monoclonal antibodies, which are currently being studied and have shown promise in treating patients with inhibitors. This potential advantage is that monoclonal antibodies such as emicizumab mimic the function of the activated factor VIII molecule, but are not structurally or immunologically similar to factor VIII and are therefore not affected by inhibitors. [33] For a surrogate woman, there are four possible outcomes for each pregnancy: 1. A girl who is not a carrier 2. A surrogate girl 3. A boy without hemophilia 4. A boy with hemophilia Hemophilia A and B are the most common serious inherited bleeding disorders. Hemophilia A and B results from a deficiency of factor VIII and factor IX proteins.
Patients experience prolonged bleeding with or without trauma, depending on the activity of the factor. The primary goal of care should be to prevent and treat bleeding. The patient must be treated in a comprehensive treatment centre where interprofessional services are offered to patients and their families at all times. This activity focuses on the epidemiology, natural history, assessment and treatment of hemophilia, and also highlights the role of the interprofessional team in assessing, managing and improving the care of patients with hemophilia. Check out NHF`s Steps for Life to learn more about living with hemophilia A. Excessive bleeding was known to the elderly. The Talmud teaches that a boy should not be circumcised if he had two brothers who died due to complications resulting from their circumcision, and Maimonides says this excluded paternal half-brothers. [52] This may be due to a concern about hemophilia. [53] The first physician to describe the disease was the Arab surgeon Al-Zahrawi, also known as Abulcasis. In the tenth century, he describes families whose husbands die of hemorrhage after only minor trauma. [54] Although many other descriptive and practical references to the disease appear in historical writings, scientific analysis did not begin until the early nineteenth century.
[ref. needed] Doctors will perform tests that will assess how long it takes for blood to clot to determine if a person has hemophilia. A clotting factor test, called a dosage, shows the type of hemophilia and severity, or how much clotting factor the person produces themselves. Patients with hemophilia should visit their doctor regularly and discuss any bleeding episodes they may experience. Also, they should avoid taking over-the-counter pain relievers such as naproxen or aspirin, which can increase their risk of bleeding. They should also take care of their oral hygiene and visit the dentist regularly. (percentage distribution of total hemophilic population by severity) The treatment strategy for hemophilia is mainly divided into two categories – treatment of acute bleeding and prophylaxis. The main complication of treatment in patients with hemophilia is the development of inhibitors. [1] Inhibitors are alloantibodies (IgG) that target factors VIII and IX and neutralize its action. It is the most serious treatment-related complication of hemophilia. The presence of inhibitors should be suspected if bleeding does not stop after infusion of clotting factors in a patient who has responded in the past. Inhibitors shorten the half-life of the infused factor concentrate, thereby reducing its effectiveness.
Inhibitors are more common in hemophilia A than in hemophilia B, as well as in severe hemophilia with an incidence of 20% to 30% compared to mild hemophilia with an incidence of 5% to 10%. The median age of inhibitor development is three years or less in severe hemophilia, while it is closer to 30 years in mild or moderate hemophilia. Mild or moderate hemophilia inhibitors mainly cause bleeding from mucosal cutaneous sites. Confirmation of the presence of an inhibitor is performed by the Nijmegen-modified Bethesda test. A major bleeding disorder often associated with hemophilia is von Willebrand disease (VWD). Hemophilia and von Willebrand disease are bleeding disorders, but the former is caused by deficient or defective clotting factors VIII (hemophilia A) and IX (hemophilia B), while the latter is caused by deficient or defective von Willebrand factor. They are similar, but have important differences.
