A bleeding disorder, usually inherited, characterized by the deficiency of coagulation factor VIII or IX.
Occurs almost exclusively in males due to an X-linked pattern of inheritance.
Graded as mild, moderate, or severe, based on factor VIII or IX level.
Musculoskeletal bleeding is the most common type of hemorrhage.
Treatment consists of coagulation factor VIII or IX replacement.
A major complication of treatment is the development of inhibitory antibodies against infused factor VIII or IX.
Hemophilia is a bleeding disorder, usually inherited with an X-linked recessive inheritance pattern, which results from the deficiency of a coagulation factor. Hemophilia A results from the deficiency of clotting factor VIII. Hemophilia B results from the deficiency of clotting factor IX. Acquired hemophilia is a separate noninherited condition. It is much rarer than congenital hemophilia and has an autoimmune-related etiology with no genetic inheritance pattern.
History and exam
Key diagnostic factors
- history of recurrent or severe bleeding
- bleeding into muscles
- prolonged bleeding following heel stick or circumcision
- mucocutaneous bleeding
- intracranial bleeding
Other diagnostic factors
- excessive bruising/hematoma
- menorrhagia and bleeding following surgical procedures or childbirth (female carriers)
- extensive cutaneous purpura (acquired hemophilia)
- gastrointestinal bleeding and hematuria
- distended and painful abdomen
- pallor, tachycardia, tachypnea, or hypotension
- family history of hemophilia (congenital hemophilia)
- male sex (congenital hemophilia)
- age >60 years (acquired hemophilia)
- autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy and postpartum period, malignancy, monoclonal gammopathies, use of certain drugs (acquired hemophilia)
1st investigations to order
- activated partial thromboplastin time (aPTT)
- plasma factor VIII and IX assay
- mixing study
- prothrombin time (PT)
- plasma von Willebrand factor assay
- plasma factor V, VII assay
- plasma factor XI, XII assay
- closure time/bleeding time and platelet aggregation studies
- serum liver aminotransferases (aspartate aminotransferase [AST] and alanine aminotransferase [ALT])
- plain x-rays of specific bony sites
- prenatal factor VIII or IX mutation analysis by amniocentesis or chorionic villus sampling (CVS)
Investigations to consider
- head or neck CT
- head or neck MRI
- abdominal ultrasound or abdominopelvic CT scan
- esophagogastroduodenoscopy or colonoscopy
- blood factor VIII or IX mutation analysis
- plasma factor VIII or IX inhibitor screen
- Bethesda assay/modified Bethesda assay (on plasma sample)
congenital: nonlife-threatening bleed into joint or muscle
congenital: nonlife-threatening bleed into urinary tract
congenital: nonlife-threatening nasal or oral bleeding
inhibitors to factor VIII or IX
no VIII/IX inhibitors: severe hemophilia
no VIII/IX inhibitors: mild-moderate hemophilia with recurrent bleeds into single joint
- Von Willebrand disease (VWD)
- Platelet dysfunction
- Deficiency of other coagulation factors (e.g., factor V, VII, X XI, or fibrinogen)
- MASAC recommendation concerning prophylaxis for hemophilia A and B with and without inhibitors
- Recommendation on the use and management of emicizumab-kxwh (Hemlibra®) for hemophilia A with and without inhibitors
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