MS1 - Hemophilia (#5)

Hemophilia A and B are

congenital X-linked bleeding disorders

Hemophilia A and B results in

lack of clotting Factors VIII or IX that greatly increases risk of bleeding

FVIII=Hemophilia ____; FIX=Hemophilia _____

A; B

if severe, hemophila can lead to

spontaneous bleeding

Patients on prophylactic treatment experience a near-normal lifespan but often develop

arthropathy secondary to repeated joint bleeds

(However, proper care can minimize early damage)

incidence of Hemophilia A: _____ / Hemophila B: ______

1 in 4,000 males; 1 in 20,000 males

Condition is usually rare in females and

asymptomatic carriers or present with mild severity.

Factors VIII and IX are necessary the formation of

thrombin

Thrombin helps

form a stable clot

Without sufficient thrombin,

secondary hemostasis fails and the formed clot is unstable and insufficient to stop hemorrhage

Diagnosis of hemophilia involves

Positive family hx + spontaneous bleeding in first two years of life

OR a prolonged bleeding episode after trauma/surgery => coagulation screen and plasma activity assay

After genetic testing is used to guide tx and differentiate hemophilia A from other conditions such as

von Willibrand dz

A plasma Factor Level (VIII or IX) that is 5%-40% of normal

mild hemo

What are the clinical fts of mild hemophilia?

Bleeding with trauma and sx

A plasma Factor Level (VIII or IX) that is 1%-5% of normal

mod hemo

What are the clinical ft of mod hemophilia?

Occasional spontaneous bleeding (<10/year), prolonged bleeding post-trauma/-sx

A plasma Factor Level (VIII or IX) that is < 1% of normal

Severe hemo

What are the clinical fts of severe hemophilia?

Frequent spontaneous bleeding into muscles and joints, typically dx’d before 2 years

What is standard for the medical tx of hemophilia?

prophylactic clotting factor replacement

recent medical advancements have produced effective non-replacement options such as

Emicizumab

For acute bleeds, on-demand treatment can be provided to

, rapidly increase factor(s) to normal/excess ranges,

What else can be used to treat acute bleeds?

RICE

acetaminophen or COX-2 inhibitors (prn for pain)

Significant secondary conditions include

hemophilic arthropathy (most common), chronic synovitis, contractures, osteonecrosis, osteopenia, subchondral cysts, joint space narrowing, angular deformities, ankylosis

Related Invasive Procedures of hemophilia include

arthrocentesis (joint aspiration), synoviorthesis, synovectomy, joint replacement (end-stage disease)

What outcome measures can be used for hemophilia?

Radiology: Pettersson classification; Physical Exam: Gilbert score, Hemophilia Joint Health Score (HJHS), HAL/PedHAL (Hemophilia Activities List); Pain: Visual Analog Scale (VAS), Wong-Baker FACES scale

What is usually strictly discouraged for hemophilia?

High-impact and extreme sports/activities, with increased risk of impac

Clinical presentation for hemophilia include:

prolonged/excessive bleeding, especially into joints (ankles, knees, elbows, shoulders most affected), is the most dominant presentation. Other presentations include chronic synovitis, cranial hemorrhage during birth, hematomas (muscle hemorrhage), compartment syndrome, myositis ossificans, nerve palsies, soft tissue pseudo tumors.

Signs and Symptoms of Bleeding Events

Hemarthrosis (Joint Bleed), m hemorrhage, gastrointestinal, and CNS

Severity of Hemophilic Arthropathy severity is established with

diagnostic imaging using the Pettersson classification