Bleeding Diathesis- A Hemorrhagic Disorder

• Von Willebrand’s disease is milder than hemophilia and affects both genders.
• 5-10% of reproductive women face menorrhagia i.e. menstrual bleeding longer than 7 days.
• Acute idiopathic thrombocytopenic purpura is the most familiar bleeding disorder in adolescence.
• Thrombocytopenic patients ( who have low platelet count) have an increased risk of both spontaneous and post‐procedural bleeding.
• Acute disseminated intravascular coagulation (DIC) or intravascular coagulation and fibrinolysis (ICF), are fairly common conditions of bleeding.

Hemophilia is the known inherited bleeding diathesis cause. In daily life, people experience a nose bleed, gum bleed, bruising from the hit, cut, etc. but more flow and flow for a long time repeatedly since childhood can be the sign of bleeding diathesis. 

Normal hemostasis requires an interrelating and interconnecting mechanism consisting of vascular and tissue components, platelets, vitamins, and coagulation proteins. Deficiency or impairment of any of these components may prompt either spontaneous congenital or trauma-related hemorrhage disorder. 

Bleeding diathesis is of great concern in pediatrics since the prevalence of congenital forms and the early expression of acquired ones appear. Bleeding diathesis or defect have been recognized with a heterogeneous group of clinical disease that differs from one another in etiology, pathogenesis, epidemiology, and incidence in the population.

OR Bleeding diathesis is a medical condition in which a person suffers from a bleeding disorder due to inherited or acquired causes. Most bleeding diathesis conditions occur when blood clotting factors do not work properly or get deficient in the body so the body is unable to heal.

Symptoms of hemorrhagic diathesis

The bleeding inclination may be mild, moderate/severe, localized /generalized, cutaneous/mucosal-cutaneous / mucosal,  and superficial /deep. Symptoms of bleeding diathesis can vary from mild to severe according to the disorder. Some of the general symptoms include:

• Getting bruises on the body quickly. 
• Bleeding from gums
• Unexplained and repeated nose bleeding
• Heavy, prolonged, and irregular menstrual bleeding
• Heavy and nonstop bleeding after surgery
• Massive bleeding after small cuts, blood draws, or vaccinations
• Unnecessary bleeding after dental work
• Bleeding from the rectum or found blood in the stool
• Blood in the urine (hematuria)
• Blood in the vomit (hematemesis)

Some genetically appeared symptoms include:

• Petechiae (small, flat rashes on body)
• Purpura (red, purple, brown bruises on body) 
• Joints, muscle, and soft tissues bleeding
• Albinism ( chediak-Higashi syndrome’s condition)
• Stretchy skin or joint (Ehlers- Danlos syndrome’ symptom )
• Multiple widened blood vessels (hereditary hemorrhagic telangiectasia’s sign)

 Epistaxis, petechiae, GTI bleedings are mostly associated with platelet disorder while bleeding from potential spaces such as muscular bleeding is associated with coagulation defects.

Causes of Bleeding diathesis

Hemorrhagic disorders may be categorized as;

 1. Defects in the primary hemostasis

It comprises quantitative and qualitative abnormalities of platelets and vascular disorders. It is a genetic disorder that can lead to bleeding diathesis. Such as;

• Hemophilia (having inherited lack of clotting factor) 
• Von Willebrand disease (in which deficiency of von Willebrand-protein factor helps in blood clotting.
• Connective tissue diseases,
• Chromosomal syndrome, 
• Vascular abnormalities, 
• Bone marrow failure syndrome 

2. Defects in secondary hemostasis

It involve intravascular disorders (blood coagulation deficiency). It can be the adaptive causes which can be acquired from the environment, having an unhealthy lifestyle, malnutrition, excessive use of drug, medication, or therapy, and herbal preparation. It includes;

• Thrombocytopenia, 
• Liver or kidney failure, 
• Amyloidosis, 
• Vitamin K deficiency,
• Anticoagulant therapy, 
• Scurvy, 
• Clotting factors deficiency, 
• Fibrinogen deficiency  

 In coagulation factor deficiency the hemostatic plug cannot be condensed by fibrin that’ why spontaneous hematomas, hemarthrosis, and ecchymoses often occur. 

A deficient or late hemostatic plug in small vessels can induce superficial or interstitial bleeding that may be intracutaneously or intramucosal and appear as purpura; a bruise.

Diagnosis of bleeding diathesis or bleeding disorder

Careful medical and family history and clinical examination are essential in the diagnosis of bleeding diathesis. The history of the patient should be taken know:

1. To know whether the disorder is acquired or congenital disease

2. To know the form of hereditary transmission (family history)

3. To know exactly the disorder’s start and the mutual association with former or accompanying disease

4. Interactive relation with drugs or medications, herbal preparations, or supplements you’re practicing, including aspirin or NSAIDs.

Afterward, a careful physical examination should be done to look for skin abnormalities, such as purpura (colored bruises) and petechiae (little red spot rashes).

Laboratory work-up for screening bleeding diathesis victim

The initial laboratory workup for screening patients with bleeding disorders should include;

•  The first step is to tests to differentiate hemorrhagic disorders from bone-marrow malignancies; from virus infections carrying screening of major viruses and from hepatic diseases. 
• The second step is laboratory examination test includes;

1. Platelet count

2. Bleeding period to test small vessel integrity and platelet function 

3. PT, AP to measure clotting activity

4. Fibrinogen determination.

5. D-dimer

6. Coagulation factor VIII, IX, and XIII activity assay. 

This series of tests determine the general area of the defect or abnormalities in platelets number or function or congenital defect of one or more clotting factors activity. 

What can be the treatment of bleeding diathesis?

Bleeding diathesis therapy and medicine depend on the type and the severity of the disorder. For many years synthetic medication for raising and decreasing blood factors to improve blood disorder has dramatically used, such as;

• Vitamin K deficiency may be treated with a vitamin K supplement plus additional clotting factors if required.
• Hemophilia is treated with synthetically produced blood clotting factors or replacement therapy in which concentration of clotting factor VIII or clotting factor IX are slowly infusing into a vein. This replacement therapy helps to replace the clotting factor that’s missing or low.
• Platelet transfusions are recommended to thrombocytopenic patients when the platelet count drops below a certain threshold point.
• Von Willebrand’s disease is treated with drugs ( like desmopressin) that increase the level of the von Willebrand factor in the blood to control bleeding.
• Fibrinolytic bleeding disorders are managed with antifibrinolytics, the medications which help to slow the process of breaking down clotting factors in the blood. These medications are useful with bleeding from mucous membranes, such as in the mouth, or menstrual bleeding, and bleeding in dental procedures.
• Factor XI deficiency can be treated with therapy including fresh frozen plasma, factor XI concentrates therapy, fibrin glue, and antifibrinolytics drugs. 
• Sometimes bleeding disorder is caused by a particular excessive use of drugs such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs), that medication may be adjusted.

But The pathology itself and the therapy certainly can often interfere with the growing-up patients. 

Research in 2018 recommends treating blood diathesis with anticoagulant; when an anticoagulant drug is linked with constant intravenous protamine sulfate. And  Heavy menstrual bleeding (menorrhagia) may be managed with hormone treatments, including birth control pills.

Some safety measures should be taken in daily life to avoid bleeding, such as practicing good oral hygiene, wearing protective paddings during sports, or physical exercise to avoid bleeding and bruising.

Takeaway

Many diseases, congenital disorders, and medications can interfere with the natural coagulation process. In general, bleeding diathesis can be the result of abnormalities of the platelets, impairment of the intrinsic coagulation system, and the extrinsic coagulation system, or a combination of these factors. But it varies from person to person and sometimes diagnosis can be difficult. 

 Proper and early detection and treatment can overcome bleeding diathesis conditions. And the person can live a healthy and normal life.