Optional medical device diagnostics – depending on the results of the history, physical examination, laboratory diagnostics, and mandatory medical device diagnostics – for symptomatic bleeding. Sonography (ultrasound examination) of the affected region of the body. X-ray of the affected body region Computed tomography (CT; sectional imaging procedure (X-ray images taken from different directions with computer-based … Hemophilia: Diagnostic Tests
The following symptoms and complaints may indicate hemophilia (bleeding disorder): Extensive bruising that occurs very easily. Movement restrictions due to joint hemorrhage (chronic hemarthros). Umbilical cord hemorrhage (initial clinical evidence). Post-bleeding after injections, etc. Post-bleeding after surgical procedures Spontaneous bleeding There is an increased risk of bleeding in the presence of inflammation, flu-like infection or … Hemophilia: Symptoms, Complaints, Signs
Pathogenesis (development of disease) Hemophilia A is caused by the decrease or complete absence of clotting factor VIII (FVIII, hemophilia A). Hemophilia B, on the other hand, is caused by the reduction or complete absence of clotting factor IX (FIX, hemophilia B). The clotting factors are part of the clotting cascade. If any part of … Hemophilia: Causes
General measures Individuals with hemophilia should obtain an identification card and carry it with them at all times Injections should be administered intravenously and/or subcutaneously Very careful hemostasis should always be performed after injuries/surgeries The following agents should be avoided: Antiplatelet agents (TAH) [There is no claim to completeness!] Abciximab Acetylsalicylic acid (ASA) Combination of … Hemophilia: Therapy
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body temperature, body weight, body height; further: Inspection (viewing). Skin, mucous membranes and sclerae (white part of the eye) [extensive bruising]. Measurement of joint mobility and range of motion of the joint(according to the neutral … Hemophilia: Examination
Laboratory parameters of the 1st order – obligatory laboratory tests. Small blood count Coagulation parameters – PTT [↑], Quick [normal]. Determination of clotting factors: VIII (hemophilia A), IX (hemophilia B), VWF (von Willebrand factor; synonyms: Clotting factor VIII-associated antigen or von Willebrand factor antigen, vWF-Ag). Severity of hemophilia Severity Factor level in % Severe hemophilia … Hemophilia: Test and Diagnosis
Therapeutic target Prevention of hemorrhage or sequelae. Therapy recommendations The following forms of substitution therapy or therapy are distinguished: On demand (= as-needed therapy; “on-demand substitution”): Substitution is always based on symptomatology. Multiple doses are often required in cases of threatening bleeding. Bleeding prevention continuous therapy: Children with severe hemophilia; initiation no later than after … Hemophilia: Drug Therapy
Medical history (history of illness) represents an important component in the diagnosis of hemophilia (bleeding disorder). Family history Are there any diseases in your family that are common? Are there any hereditary diseases in your family? Social anamnesis Current medical history/systemic medical history (somatic and psychological complaints). What symptoms have you noticed? Do you bruise … Hemophilia: Medical History
Blood, blood-forming organs-immune system (D50-D90). Willebrand-Jürgens syndrome (synonyms: von Willebrand-Jürgens syndrome; von Willebrand syndrome, vWS) – most common congenital disease with increased bleeding tendency; disease is predominantly transmitted autosomal-dominantly with variable penetrance, type 2 C and type 3 are inherited autosomal-recessively; there is a quantitative or qualitative defect of the von Willebrand factor; this impairs, … Hemophilia: Or something else? Differential Diagnosis
The following are the most important diseases or complications that may be contributed to by hemophilia (hemophilia): Infectious and parasitic diseases (A00-B99). Infection with hepatitis B, hepatitis C, HIV, etc., due to therapy (direct blood donation, blood units, or blood plasma); today, only substitution therapy with blood factors. Musculoskeletal system and connective tissue (M00-M99). Joint … Hemophilia: Complications
Classification of hemophilia according to factor activity. Factor activity: factor VIII/factor IX Assessment Clinical symptoms 25-50 % Subhemophilia Mostly without symptoms 5-25 % Mild hemophilia Usually asymptomatic, possibly postoperative secondary hemorrhage or hematoma after more severe trauma (injury) 1-5 % moderate hemophilia Bleeding after minor trauma < 1 % severe hemophilia Spontaneous bleeding