Bleeding Disorder

See Also

Epidemiology

Bleeding Gums, Epistaxis and easy bruisability are common in healthy patients (occurs in up to 45%)
Menorrhagia is very common in women (5-10%)
1. Bleeding Disorders contribute to up to 29% of Menorrhagia cases (esp. Von Willebrand Disorder)

History
General

Screening Questions for congenital Bleeding Disorder
1. ISTH Bleeding Assessment Tool (ISTH-BAT)
Family History of Bleeding Disorder (e.g. Hemophilia, Von Willebrand Disease)
1. Include second-degree relatives, and back several generations
2. Negative Family History does not exclude inherited Bleeding Disorder
Medications
1. See Anticoagulant
2. See Drug Induced Platelet Dysfunction

History
Symptoms or Clinical Clues

Critical Illness or hospitalization
1. Thrombotic Thrombocytopenic Purpura
2. Disseminated Intravascular Coagulation
Acute Diarrhea (E. coli 0157:H7)
1. Hemolytic Uremic Syndrome
Upper Respiratory Infection (esp. Streptococcal Pharyngitis)
1. Henoch Schonlein Purpura
Chronic Bleeding Disorder
1. Systemic Lupus Erythematosus
2. Ehlers-Danlos Syndrome
  1. Hypermobile joints
3. Von Willebrand Disease
  1. Menorrhagia (most common), recurrent Epistaxis or Gingival Bleeding
  2. Often delayed diagnosis with normal basic coagulation labs (until Platelet closure time is checked)
4. Hemophilia A (Factor VIII) or Hemophilia B (Factor IX) deficiency
  1. Hemoarthrosis or other soft tissue bleeding in males
5. Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
  1. Telangiectasias involving lips, Tongue, skin, nose and GI Tract
6. Immune Thrombocytopenic Purpura
  1. Especially children (often following viral syndrome such as EBV, VZV or CMV)
Night Sweats and weight loss
1. Hematologic Malignancy (Leukemia, Myelodyspastic syndrome, Lymphoma)
Malnutrition
Bruising
1. Physical Abuse
2. Purpura Simplex
  1. Women with Bruising on arms and upper thighs
3. Senile Purpura
  1. Older adults with dark Bruises in areas of thin skin (esp. extensor arms)
Pregnancy
1. HELLP Syndrome
  1. Severe Preeclampsia with Hemolysis, elevated liver enzymes and Low Platelet Count

History
Example Presentations

Excessive Newborn umbilical stump bleeding
1. Associated disorders include coagulation Protein deficits, Factor XIII deficiency
2. Occult Intracranial Hemorrhage may be associated
Male infant with swollen joints
1. Common presentation in Hemophilia
2. May be associated with forehead Cephalohematomas, excessive post-Circumcision bleeding
Post-viral syndrome in a previously healthy child
1. Associated with Immune Thrombocytopenic Purpura
2. May present with Petechiae or oral Purpura
Adolescent females with heavy Menorrhagia
1. Common presentation in Von Willebrand Disease
2. May be associated with recurrent Epistaxis, severe Iron Deficiency Anemia

Signs
Abnormal Bleeding (multiple sites)

Nasopharynx
1. Epistaxis
2. Bleeding Gums
Gastrointestinal
1. Hematemesis
2. Melana
Gynecologic
1. Menorrhagia
2. Postpartum Hemorrhage
Musculoskeletal
1. Muscle Hematomas
2. Hemarthrosis
Skin
1. Purpura
2. Petechiae
Trauma
1. Excessive bleeding from minor wounds
2. Excessive bleeding following surgery or dental procedures
3. Intracerebral bleeding event

Signs
Clinical Clues

Spontaneous hemarthrosis, muscle Hemorrhage or retroperitoneal bleeding
1. Congenital Bleeding Disorder
Mucocutaneous bleeding (Petechiae, Epistaxis, Gingival Bleeding, GI Bleeding, GU Bleeding)
1. Platelet Bleeding Disorder
Hepatomegaly
1. Liver disorder
Splenomegaly
1. Hematologic Malignancy
2. Idiopathic Thrombocytopenic Purpura

Causes

Coagulation Disorder
1. See Coagulation Bleeding Disorders
2. See Coagulopathy in Pregnancy
Platelet Disorders
1. See Platelet Bleeding Disorders
2. See Thrombocytopenia
3. See Drug Induced Platelet Dysfunction
Vascular Disorders
1. See Blood Vessel Wall Bleeding Disorders

Labs
Initial

Complete Blood Count with Platelets
Peripheral Blood Smear
ProTime (PT) with INR
Partial Thromboplastin Time (PTT)
Comprehensive metabolic panel (Liver Function Tests and Renal Function tests)
Bleeding Time is NOT typically used due to lack of standardization

Labs
Based on initial testing

Normal PT, PTT, and Platelet Count/morphology
1. Obtain labs
  1. Von Willebrand Factor Antigen
  2. Von Willebrand Factor Activity (risocetin Cofactor activity)
  3. Factor VIII Level
  4. AVOID Platelet Function Closure Time (PFCT, Platelet Function Analyzer-100)
    1. No longer recommended due to False Negatives in less than severe cases of Von Willebrand
2. Abnormal labs
  1. Von Willebrand Disease (additional testing can identify type)
3. Normal labs
  1. Refer to hematology for additional evaluation of Platelet function disorder
  2. May require light transmission aggregometry
Partial Thromboblastin Time (PTT) abnormality and Normal PT/INR (Intrinsic Clotting Pathway Abnormal)
1. PTT corrects with a PTT Mixing Study (patient plasma mixed 1:1 with normal plasma)
  1. Obtain Factor VIII, Factor IX, and Factor XI assays
    1. Hemophilia A (Factor VIII Deficiency, 85% of Hemophilia cases)
    2. Hemophilia B (Factor IX Deficiency, 15% of Hemophilia cases)
    3. Hemophilia C (Factor XI Deficiency, rare)
  2. Consider Von Willebrand's testing if low Factor VIII
    1. Von Willebrand Disease alone does not affect PTT
    2. Von Willebrand Disease with Factor VIII:C deficiency results in a mild increase in PTT
2. PTT does not correct with a PTT Mixing Study (mixed with normal blood)
  1. Obtain Lupus Anticoagulant
  2. Obtain Factor VIII Inhibitor
ProTime (PT) or INR abnormal and Normal PTT (Extrinsic Clotting Pathway Abnormal) - uncommon
1. PT/INR corrects with Vitamin K Supplementation
  1. Replace Vitamin K as needed
  2. Assess for Malnutrition and malabsorption causes of Vitamin K Deficiency
2. PT/INR does not correct with Vitamin K Supplementation
  1. Obtain Factor VII assay
BOTH ProTime (PT/INR) and Partial Thromboplastin Time (PTT) Abnormal
1. Causes
  1. Comorbid advanced liver disease (e.g. Cirrhosis)
  2. Disseminated Intravascular Coagulation (DIC)
  3. Anticoagulant use (Warfarin or Heparin)
  4. Combined Intrinsic Clotting Pathway and Extrinsic Clotting Pathway
2. Labs
  1. Liver Function Tests
  2. Fibrinogen level
  3. Factor Assays
Platelet abnormality
1. See Platelet Bleeding Disorders
2. See Drug Induced Platelet Dysfunction
3. See Thrombocytopenia

Management

Hemorrhage Management
1. See Hemorrhage Management
2. See Emergent Reversal of Anticoagulation
Manage Specific Conditions
1. See Hemophilia A (Factor VIII Deficiency)
2. See Hemophilia B (Factor IX Deficiency)
3. See Von Willebrand Disease
Consider Acquired Coagulopathy
1. Cirrhosis (decrease of both coagulant and Anticoagulant factors)
2. End Stage Renal Disease (Anemia, Platelet Dysfunction)
3. Rattlesnake bite (Fibrinogen deficiency)
4. Massive Transfusion (Dilutional Coagulopathy)
5. Disseminated Intravascular Coagulation (DIC)
  1. Constant oozing of blood from inserted lines, drains and tubes
  2. Multiple sites of Hemorrhage including Gastrointestinal Bleeding
Hematology Consultation indications
1. Significant finding on testing
2. Preoperative concern for Bleeding Disorder
  1. Prior history of excessive bleeding with invasive procedures
3. Nondiagnostic results with high clinical suspicion
4. Major or excessive bleeding with minor Trauma

References

Ferdjallah (2024) Mayo Clinic Pediatric Days, attended lecture 1/16/2024
Allen (2002) Pediatr Clin North Am 49: 1239-56 [PubMed]
Ballas (2008) Am Fam Physician 77:1117-24 [PubMed]
Jones (2024) Am Fam Physician 110(1): 58-64 [PubMed]
Neutze (2016) Am Fam Physician 93(4): 279-86 [PubMed]