Hemophilia Clinical Study Guide

Comprehensive vocabulary flashcards covering the pathophysiology, lab findings, medications, clinical features, and emergency priorities for Hemophilia based on the lecture transcript.

Hemophilia

An inherited bleeding disorder caused by deficiency of a clotting factor, which is usually X-linked recessive and occurs primarily in males.

Hemophilia A

A form of hemophilia caused by a deficiency in Factor VIII.

Hemophilia B

A form of hemophilia caused by a deficiency in Factor IX.

Pathophysiology of Hemophilia

Deficient clotting factor leads to an impaired intrinsic coagulation pathway, resulting in inadequate thrombin/fibrin formation and an inability to form a stable clot, causing prolonged bleeding.

Hemarthrosis

Bleeding into joints that causes joint pain, swelling, and inflammation, and can lead to progressive joint destruction or chronic arthropathy.

Hemophilia Laboratory Pattern

Prolonged aPTT/PTT ($\uparrow\text{aPTT}$) due to an affected intrinsic pathway, accompanied by usually normal PT/INR and usually normal platelet count.

Mixing Studies

Diagnostic laboratory tests used to help distinguish a clotting factor deficiency from a factor inhibitor.

Specific Factor Assay

A diagnostic laboratory test that identifies the specific deficient factor (Factor VIII or Factor IX).

Factor Replacement Therapy

The primary treatment for hemophilia, involving administration of Factor VIII replacement for Hemophilia A or Factor IX replacement for Hemophilia B.

Desmopressin (DDAVP)

A medication used in selected patients with mild hemophilia A that increases endogenous Factor VIII and von Willebrand factor.

Emicizumab

A medication used for routine prophylaxis in many patients with hemophilia A, including those with factor inhibitors.

Tranexamic Acid

An antifibrinolytic medication that may be used for certain mucosal or dental bleeding in hemophilia.

Factor Inhibitors

Antibodies that can develop in patients receiving factor products, making hemophilia treatment more difficult.

Intracranial Bleeding Priority Signs

Emergency findings following a head injury in hemophilia, including severe headache, vomiting, confusion, lethargy, seizures, and changes in level of consciousness.

Common Sites of Hemarthrosis

The knees, ankles, and elbows.

Contraindicated Medications in Hemophilia

Medications that increase bleeding risk, particularly aspirin and NSAIDs, unless specifically approved by a provider.

Hemophilia vs. Sickle Cell Comparison

Hemophilia is a bleeding disorder caused by Factor VIII/IX deficiency where the main concern is hemorrhage (treated with factor replacement), while Sickle Cell is an RBC/hemoglobin disorder caused by abnormal HbS where the main concern is ischemia/organ damage (treated with pain control and hydration).