A. 20 Hemophilias

Question 1

A. 20 Hemophilias

definition

Answer 1

Hemophilia is a genetic disorder characterized by the deficiency or dysfunction of specific clotting factors in the blood, which leads to prolonged bleeding.

Question 2

A. 20 Hemophilias

Types

Answer 2

Hemophilia A, caused by a deficiency of factor VIII

Hemophilia B, caused by a deficiency of factor IX.

Hemophilia C: Caused by a deficiency in Factor XI, which is less severe and generally presents with milder bleeding issues compared to Hemophilia A and B.

Acquired Hemophilia: Not a genetic type, but a condition where antibodies develop against factor VIII, leading to bleeding problems in individuals without a previous history of hemophilia.

Question 3

A. 20 Hemophilias

clinical

Answer 3

Spontaneous or Delayed Onset Bleeding: Can occur in joints, muscles, soft tissues, and mucosal areas following varying degrees of trauma.

• Repeated Hemarthrosis: For example, bleeding into the knee joint can lead to joint damage.
• Recurrent Bruising or Hematoma Formation: Unexplained bruising or swelling due to bleeding.
• Oral Mucosal Bleeding: Nosebleeds, excessive bleeding after minor dental procedures.
• Additional Sites/Symptoms of Hemorrhage:
• Central Nervous System (CNS): Headaches, neck stiffness.
• Gastrointestinal (GI) Tract: Symptoms such as melena or hematemesis.
• Genitourinary (GU) Tract: Hematuria (blood in urine).
• Female Carriers: May exhibit mild symptoms.

Question 4

A. 20 Hemophilias

DX

Answer 4

• Patient and Family History: If strongly positive, proceed to a quantitative assessment of factor activity levels.
• Genetic Testing: Conducted to confirm the diagnosis.

Screening Tests:
- Prothrombin Time (PT): Typically normal.
- Platelet Count: Usually normal.
- Activated Partial Thromboplastin Time (aPTT): Prolonged if abnormal. If prolonged, perform a mixing study, followed by a quantitative assessment of factor activity levels.

Question 5

A. 20 Hemophilias

Medical TX

Answer 5

Treatment

• Substitution of Clotting Factors:
• By Factors VIII, IX, or XI Concentrate: Administer as needed (e.g., during trauma or surgery).
• Severe Hemophilia: Prophylaxis (additional factor substitution may be required in cases of trauma).
• Desmopressin: For mild hemophilia A; a synthetic vasopressin analog that stimulates the release of factor VIII.

Antifibrinolytic Therapy (e.g., e-aminocaproic acid, tranexamic acid):

• Used alongside factor substitution, particularly if surgery is performed in the abdominal cavity.
• Helps to inhibit the breakdown of clots and reduce the risk of bleeding.

Question 6

A. 20 Hemophilias

Acquired Hemophilia

Answer 6

Incidence: 0.2-1.5 per million (with a smaller peak in ages 20-30 years and among females, often related to childbirth).

Characteristics: Typically marked by autoantibodies against factor VIII.

Associated Conditions:
- 50% of cases linked to underlying conditions such as autoimmune disorders, infections (e.g., HBV), drug use, or pregnancy.
- 50% of cases remain idiopathic.

Diagnosis: Prolonged aPTT and mixing studies (usually uncorrected).

Symptoms:
- Bleeding in patients with no family history of hemophilia.
- Suffusions, large hematomas, mucosal bleeding (notably in non-surgical patients).

Treatment:

• Bypassing Agents: Use activated prothrombin complex concentrates (aPCC), recombinant factor VIIa, or plasmapheresis.
• Corticosteroids: Administer cyclophosphamide to target factor VIII production.