A bleeding disorder, usually inherited, characterised 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 haemorrhage.
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.
Haemophilia is a bleeding disorder, usually inherited with an X-linked recessive inheritance pattern, which results from the deficiency of a coagulation factor. Haemophilia A results from the deficiency of clotting factor VIII. Haemophilia B results from the deficiency of clotting factor IX. Acquired haemophilia is a separate non-inherited condition. It is much rarer than congenital haemophilia and has an autoimmune-related aetiology with no genetic inheritance pattern.
History and exam
Key diagnostic factors
- presence of risk factors
- history of recurrent or severe bleeding
- bleeding into muscles
- prolonged bleeding following heel prick or circumcision
- mucocutaneous bleeding
- intracranial bleeding
Other diagnostic factors
- excessive bruising/haematoma
- menorrhagia and bleeding following surgical procedures or childbirth (female carriers)
- extensive cutaneous purpura (acquired haemophilia)
- gastrointestinal bleeding and haematuria
- distended and painful abdomen
- pallor, tachycardia, tachypnoea, or hypotension
- family history of haemophilia (congenital haemophilia)
- male sex (congenital haemophilia)
- age >60 years (acquired haemophilia)
- autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy and postnatal period, malignancy, monoclonal gammopathies, use of certain drugs (acquired haemophilia)
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
- antenatal 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
- oesophagogastroduodenoscopy 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: non-life-threatening bleed into joint or muscle
congenital: non-life-threatening bleed into urinary tract
congenital: non-life-threatening nasal or oral bleeding
inhibitors to factor VIII or IX
no VIII/IX inhibitors: severe haemophilia
no VIII/IX inhibitors: mild-moderate haemophilia 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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