What is Hemophilia?

Hemophilia is a rare disorder where blood clots abnormally due to insufficient clotting factors. Hemophilia patients bleed longer when injured than it would if the blood clots properly. The main concern for severe Hemophilia is internal bleeding, especially in the ankles, elbows, and knees. Internal bleeding is life-threatening because it might damage tissues and organs.

• Hemophilia A, also called Classic Hemophilia, is a recessive X-linked disorder caused by Dysfunctional or deficiency of FVIII.
• Hemophilia B is an inherited recessive X-linked disease caused by a deficiency of functional plasma coagulation FIX.

Pathophysiology of Hemophilia

Hemophilia A

The main production sites for FVIII are believed to be the reticuloendothelial system and the vascular endothelium located in the liver. Dysfunctional of the protein or deficiency of FVII or the presence of inhibitors obstructs the normal blood clotting process leading to excessive bleeding in response to trauma. The severe cases of Hemophilia A led to spontaneous bleeding.

Hemophilia joints are predisposed to bleeding by a high degree of FXa caused by the synthesis of the high levels of tissue factor cascade inhibitors produced by human synovial cells. This may also be associated with the dramatic response of FVIIa infusion in people with acute bleeding and FVIII inhibitors.

Synovial inflammation may result from joint bleeding, which predisposes the joint to additional bleeding leading to the target joint condition (a joint that has bled at least four times in six months). It is estimated that about 30% of severe Hemophilia A patients develop alloantibody (mostly IgG antibodies of IgG4 subclass) inhibitors that aid in neutralizing the replacement of therapy’s clotting effects.

Hemophilia B

The presence of inhibitors, malfunction, and deficiency of factor FIX may disrupt the intrinsic blood clotting process, causing excessive bleeding/spontaneous bleeding following trauma. The common sites for bleeding include joints (elbow and knee) central nervous system, the genitourinary system, muscles, the pulmonary system, the cardiovascular system, and the gastrointestinal system.

FIX depends on vitamin K (glycoprotein) initially produced by hepatocytes. This protein undergoes vigorous modifications before it enters the bloodstream. The blood clotting process starts when FXII is activated due to contact with damaged endothelium. F X is converted to FXa by an intrinsic system with the help of tissue factor (TF) or calcium ions, FVII, and thromboplastin.

FIX and FVIII circulate in the body in an inactive form. They activate FX, a significant enzyme that converts fibrinogen to fibrin. Thus, the absence of either FVII or FIX in the body can significantly compromise the blood clotting process leading to bleeding.

Statistics and Incidences of Hemophilia

Globally the cases of Hemophilia are growing among pediatric patients. Hemophilia A is among the most typical hereditary disorder and the second most prevalent factor deficiency after vWD (von Willebrand disease). Globally, Hemophilia A affects one male out of 5000 males, with a third of these patients without a background history of the family disease. The prevalence in the United States is about 20.6 cases out of 100,000 males. Studies provide that there might be around 20,000 people in the US who might be suffering From Hemophilia A. Globally, it is estimated that Hemophilia A occurs in about 400,000 males, with most of them remaining undiagnosed in emerging countries.

Hemophilia A is primarily found in all ethnic and racial groups. It mainly affects males because it is an X-linked recessive disease, with females being asymptomatic carriers.

Hemophilia B is less prevalent than Haemophilia A, occurring in 1 male out of 25,000 to 30,000 males. Its prevalence rate is about 5.3 cases in 100,000 males, with 44% possessing severe conditions. Hemophilia B is present in all ethnic groups and races, with a prevalence of about 14% of all Hemophilia cases and 80% of the total cases being Hemophilia A. The remaining percentage includes all other blood clotting abnormalities.

Causes of Hemophilia

• A genetic disorder disrupts the intrinsic blood clotting process. Hemophilia A is caused by acquired or inherited genetic mutation leading to deficiency or dysfunction of clotting FVIII. Hemophilia B is caused by the deficiency or dysfunction of acquired or inherited mutation in clotting Factor IX or FIX inhibitor. Both Hemophilia A and B conditions are inherited in recessive X-linked form.
• Spontaneous genetic mutation. In this case, there is no family history of Hemophilia. This happens due to a new gene mutation responsible for the production of clotting factors or due to other genetic changes.

Clinical Manifestation of Hemophilia

• General symptoms. Orthostasis and weakness are among the signs of Hemophilia.
• Central nervous system. Hemophilia disorder may cause headaches, lethargy, vomiting, spinal cord syndromes, stiff neck, and irritability.
• Painless symptoms, peritoneal signs, and splenic/hepatic tenderness.
• 90% of the patients may be diagnosed with gross hematuria in the genitourinary tract.
• Spontaneous hemorrhage. Neonatal bleeding (for instance, during circumcision) is common in patients with severe Hemophilia, with about 30-50% of the total cases.
• Cracking, pain, warmth, tingling, and resistance to utilizing joints in children are typical.

Hemophilia Assessment and Diagnostic Findings

Hemophilia diagnosis can be established by assessing the following.

• MRI. was done on the spinal column and the head to determine traumatic or spontaneous bleeding. It is also vital in assessing synovium, joint space, and cartilage.
• Testing the carriers. The FVIII coagulant ratio to the vWF antigen concentration measures screen carriers’ status.
• CT scans. It helps in assessing for traumatic intracranial and spontaneous hemorrhage. It is usually done on the head without contrast.
• Chromogenic assay. It is believed to be more accurate, but it is not widely available in most clinical facilities. This assay assesses the plasma FVII activity levels.
• It is essential to assess affected joints by chronic or acute effusions.
• Testing for inhibitors. It is clinically essential to confirm FVIII inhibitors when a patient experiences prolonged bleeding episodes that are not controlled by infusion of the right amount of factor concentrates.
• In acute hemarthrosis, joint assessment via radiography is not essential. Patients with untreated, recurrent hemorrhage or inadequately treated radiography may reveal chronic degenerative joint disorder.
• Laboratory studies. This involves coagulation studies, an assay of FVIII, and a complete blood cell count.

Medical management of Hemophilia

• FIX, and FVIII concentrates. Different concentrates are available for both Hemophilia A and B. in addition, enhanced hemostasis infusion minimizes factors used, resulting in significant savings.
• Prehospital care. The mainstay of prehospital care is rapid patient transport to definitive care. Prehospital care providers should use aggressive hemostasis methods, gather historical data in case the patient is not communicating, and assist patients with able self-administered factor therapy.
• Emergency department care. Rectify coagulopathy immediately, utilize aggressive hemostatic methods, and involve a diagnostic workup for bleeding. Large hematomas and acute joint bleeding require enough factor replacement for a more extended period until the bleeding stops. Severe cases of Hemophilia require an initial treatment of 100% FVIII levels until the patient is stable, where the dose is gradually reduced.
• Bleeding management.
• It is an optional treatment of moderate and mild Hemophilia A. Desmopressin helps to increase plasma FVIII levels in the body, resulting in adequate hemostasis that stops bleeding and prepares patients for minor surgical procedures.
• Treatment with inhibitors. These are antibodies that aid in neutralizing FVIII, making replacement therapy insignificant. However, treating patients with inhibitors of FVIII is challenging.
• Pain management. Narcotic agents have effective in treating Hemophilic chronic arthropathy, which is painful. However, prolonged use of narcotic agents may lead to addiction. Therefore, nonsteroids anti-inflammatory are good alternatives, and their impacts on platelet functions
• Prophylactic factor infusion
• Patients with severe conditions should not engage in high-impact contact activities with a risk of trauma. However, appropriate physical activity reduces severity and injury rate and elevates overall conditioning and psychosocial functioning.
• Gene therapy. Advances in molecular technologies and cloning of FVIII make it possible to cure Hemophilia with gene therapy.

Pharmacologic Management of Hemophilia

• Vasopressin-related. Patients with mild Hemophilia are provided with desmopressin, which helps increase FVIII plasma levels.
• Factor VIII. It is an optional treatment for acute bleeding in Hemophilia A.
• Monoclonal antibodies. They bind a specific body substance, like antigens or molecules.
• Factor IX. It is an optional treatment for acute bleeding in Hemophilia B.
• Antihemophilic agents. Effective in controlling bleeding and fixing FIX deficiency in Hemophilia B and control/preventing bleeding Hemophilia A patients and inhibitors to FVIII.
• Coagulation factor VIIa. FVIIa is a significant agent that activates FX to FXa and FIX to FIXa.
• Coagulation factor. Deficiency of FVIII is replaced with FVIII concentrates in Hemophilia A patients to prevent or attain normal hematologic response to bleeding.

Nursing Management of Hemophilia

Nursing Assessment for Patients with Hemophilia

• Physical assessment. Examine the patient for swelling joints, contracture, ability to move affected limbs, and limited ROM,
• Make inquiries about hemorrhage, spontaneous hemorrhage, and contaminant illnesses such as chronic inflammatory, autoimmune diseases, hematologic malignancies, and allergic reactions to drugs) and bleeding disorders

Nursing Diagnosis of Hemophilia

• Risk for injury. Associated with reduced FVIII or FIX
• Compromised family coping. Linked to inadequate and incorrect information.
• Acute pain. Associate with a traumatic muscle injury.
• Compromised physical injury. It is associated with discomfort and pain due to bleeding occurrences.
• Risk for bleeding. It is associated with reduced concentration of FVII and FIX.

Nursing Care Planning and Goals.

The main goals include:

• Decrease injury from possible bleeding via proper prophylactic measures.
• Enhance the functional relationship between the family and the child’s illness.
• Enhance physical mobility.
• Decrease child pain.

Nursing Interventions

• Enhance physical mobility. When the child is stable, encourage gentle motion exercises. Educate the patient on preventive measures like factor product administration and protective gear, orthopedic consultation, and refer them for physical therapy.
• Prevent injury. Use soft objects and toys that are safe. It is crucial to use padded rails sides for kids. Avoid contact activities and sports like soccer, karate, ice, and hockey. In addition, avoid rectal temperature and ensure proper oral hygiene.
• Help families cope. Support the patient’s family to raise their issues and find solutions. Encourage a free expression of feelings in helping their relatives with chronic conditions and provide coping strategies.
• Prevent bleeding. Observe hematocrit and hemoglobin levels and evaluate for inhibitor antibodies to FVIII.
• Relieve pain. If possible, immobilize and wrap joints in elastic bandages. Raise affected body parts and apply a cold compressor to minimize bleeding.

Evaluation

• Reduced child pain.
• The child’s Optimal physical mobility was effectively maintained.
• The possible risk of injury from bleeding was minimized.
• The family coped effectively with the child’s illness.

Documentation Guidelines

• Religious and cultural restrictions of an individual and their preferences.
• Care plans and involved people.
• Signs and symptoms are to be included.
• Teaching plan.
• Patient’s response to interventions, teachings, and actions taken.
• Progress towards the outcome.
• Long-term needs.