What to Know About Bleeding Diathesis: Causes, Symptoms, Treatment
Bleeding diathesis means a tendency to bleed or bruise easily. The word “diathesis” comes from the ancient Greek word for “state” or “condition.”
Most bleeding disorders occur when blood doesn’t clot properly. Symptoms of bleeding diathesis can range from mild to severe.
The causes of bleeding and bruising can vary widely, including:
- a normal response to injury
- an inherited disorder
- a response to some drugs or herbal preparations
- abnormalities in blood vessels or connective tissue
- an acute disease, such as leukemia
Keep reading to learn about common symptoms and causes of bleeding diathesis, along with their diagnosis and treatment.
Symptoms of bleeding diathesis
The symptoms of bleeding diathesis are related to the cause of the disorder. General symptoms include:
- bruising easily
- bleeding gums
- unexplained nosebleeds
- heavy and prolonged menstrual bleeding
- heavy bleeding after surgery
- heavy bleeding after small cuts, blood draws, or vaccinations
- excessive bleeding after dental work
- bleeding from the rectum
- blood in your stool
- blood in your urine
- blood in your vomit
Other specific symptoms include:
- Petechiae. These small, flat, red, rash-like dots of blood appear under the skin, often on the lower legs.
- Purpura. These small bruises can be red, purple, or brown. They can be dry, appearing only in the skin. Or they can be wet, appearing in the mucous membranes. The wet kind of purpura may indicate a low platelet count (thrombocytopenia).
- Bleeding into joints, muscles, and soft tissues. This may occur with hemophilia.
- Gastrointestinal bleeding. This may be associated with acquired von Willebrand syndrome
- Albinism. This rare condition is associated with Hermansky-Pudlak and Chediak-Higashi syndromes.
- Joint hypermobility or stretchy skin. These symptoms are associated with Ehlers–Danlos syndrome (EDS).
- Multiple widened blood vessels (telangiectasia). These symptoms may be associated with hereditary hemorrhagic telangiectasia.
Causes of bleeding diathesis
Bleeding diathesis can be inherited or acquired. In some cases, inherited bleeding disorders (such as hemophilia) may also be acquired.
The most common causes of bleeding diathesis are platelet disorders, which are usually acquired and not inherited. Platelets are fragments of large bone marrow cells that aid blood clotting.
This table lists all possible causes of bleeding diathesis. More information on each cause follows.
Inherited bleeding diathesis
Hemophilia is perhaps the best-known inherited bleeding diathesis, but it’s not the most common one.
In hemophilia, your blood has abnormally low levels of clotting factors. This can lead to excessive bleeding.
Hemophilia affects mostly males. The National Hemophilia Foundation estimates that hemophilia occurs in about 1 in every 5,000 male births.
Von Willebrand disease
Von Willebrand disease is the most common inherited bleeding disorder. A lack of the von Willebrand protein in your blood prevents the blood from clotting properly.
Von Willebrand disease affects both males and females. It’s generally milder than hemophilia.
The Centers for Disease Control and Prevention (CDC) reports that von Willebrand disease occurs in about 1 percent of the population.
Women may be more likely to notice symptoms because of heavy menstrual bleeding.
Connective tissue disorders
Ehlers-Danlos syndrome (EDS)
Ehlers-Danlos syndrome affects the body’s connective tissues. Blood vessels may be fragile, and bruising may be frequent. There are 13 different types of the syndrome.
Approximately 1 in 5,000 to 20,000 people worldwide have Ehlers-Danlos syndrome.
Osteogenesis imperfecta (brittle bone disease)
Osteogenesis imperfecta is a disorder that causes fragile bones. It’s usually present at birth and only develops in children with a family history of the disease. About 1 person in 20,000 will develop this brittle bone disorder.
Chromosomal abnormalities may be associated with bleeding disorders caused by abnormal platelet counts. These include:
- Turner syndrome
- Down syndrome (some specific forms)
- Noonan syndrome
- DiGeorge syndrome
- Cornelia de Lange syndrome
- Jacobsen syndrome
Factor XI deficiency
Factor XI deficiency is a rare inherited bleeding disorder where a lack of the blood protein factor XI limits blood clotting. It’s usually mild.
The symptoms include heavy bleeding after trauma or surgery and a predisposition to bruising and nosebleeds.
Fibrinogen is a blood plasma protein involved in blood clotting. When fibrinogen is deficient, it can cause severe bleeding, even from minor cuts. Fibrinogen is also known as coagulation factor I.
There are three forms of fibrinogen disorders, all rare: afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia. Two types of fibrinogen disorders are mild.
Vascular (blood vessel) abnormalities
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary hemorrhagic telangiectasia (HHT) (or Osler-Weber-Rendu syndrome) affects an estimated 1 in 5,000 people.
Some forms of this genetic disorder are characterized by visible formations of blood vessels near the surface of the skin, called telangiectases.
Other symptoms are frequent nosebleeds and in some cases internal hemorrhages.
Other congenital bleeding disorders
- psychogenic purpura (Gardner-Diamond syndrome)
- bone marrow failure syndromes, including Fanconi anemia and Shwachman-Diamond syndrome
- storage pool disorders, including Gaucher disease, Niemann-Pick disease, Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Wiskott-Aldrich syndrome
- Glanzmann thrombasthenia
- Bernard-Soulier syndrome
Acquired bleeding diathesis
In some cases, a bleeding disorder that’s usually inherited may also be acquired, often as a result of the disease.
Here are some of the acquired causes of bleeding diathesis:
- low platelet count (thrombocytopenia)
- liver disease
- kidney failure
- thyroid disease
- Cushing syndrome (characterized by abnormally high levels of the hormone cortisol)
- vitamin K deficiency (vitamin K is essential for blood clotting)
- disseminated intravascular coagulation (DIC), a rare condition that causes too much clotting of your blood
- anticoagulant (blood thinner) therapy, including heparin, warfarin (Coumadin), argatroban, and dabigatran (Pradaxa)
- poisoning by anticoagulants such as rat poison or substances contaminated with rat poison
- acquired clotting factor deficiency or fibrinogen deficiency
How bleeding diathesis is treated
Treatment for bleeding diathesis depends on the cause and the severity of the disorder. In recent decades, synthetic production of blood factors has greatly improved treatment, cutting down on the possibility of infections.
Any underlying disease or deficiency will be treated appropriately. For example, treatment for a vitamin K deficiency may be a vitamin K supplement plus additional clotting factor if necessary.
Other treatments are specific to the disorder:
- Hemophilia is treated with synthetically produced blood clotting factors.
- Von Willebrand’s disease is treated (if needed) with drugs that increase the level of von Willebrand factor in the blood, or with blood, factor concentrates.
- Some bleeding disorders are treated with antifibrinolytics. These medications help slow the breakdown of clotting factors in the blood. They are particularly useful with bleeding from mucous membranes, including in the mouth, or menstrual bleeding.
- Antifibrinolytics may also be used to prevent excessive bleeding in dental procedures.
- Factor XI deficiency may be treated with fresh frozen plasma, factor XI concentrates, and antifibrinolytics. A newer treatment is the use of NovoSeven RT, a genetically engineered blood factor.
- If the bleeding disorder is caused by a particular drug, that medication may be adjusted.
- A 2018 research paper recommends treating blood diathesis when an anticoagulant drug is involved with continuous intravenous protamine sulfate.
- Heavy menstrual bleeding may be treated with hormone treatments, including birth control pills.
How bleeding diathesis is diagnosed
Bleeding diathesis, especially mild cases, can be difficult to diagnose.
A doctor will start with a detailed medical history. This will include any bleeding you’ve had in the past, or whether you have any family members who’ve experienced bleeding. They’ll also ask about any medications, herbal preparations, or supplements you’re taking, including aspirin.
Medical guidelines grade the severity of bleeding.
The doctor will physically examine you, especially to look for skin abnormalities, such as purpura and petechiae.
With infants and small children, the doctor will look for abnormal physical characteristics typically associated with some congenital bleeding disorders.
Basic screening tests include a full blood workup (or complete blood count) to look for abnormalities in your platelets, blood vessels, and coagulation proteins. The doctor will also test your blood clotting capability and look for clotting factor deficiencies.
Other specific tests will look for fibrogen activity, von Willebrand factor antigen, and other factors, such as vitamin K deficiency.
A doctor may also order other tests if they suspect that liver disease, blood disease, or another systemic disease may be involved with your bleeding disorder. They may also do genetic testing.
There’s no one test that provides a definitive diagnosis, so the testing process may take time. Also, laboratory tests results may be inconclusive, even though there’s a history of bleeding.
Your doctor may refer you to a blood specialist (hematologist) for further testing or treatment.
When to see a doctor
If you have a family history of bleeding, or if you or your child has more than the usual bruising or bleeding, see a doctor. It’s important to have a definite diagnosis and to get treated. Some bleeding disorders have a better prognosis if they’re treated early.
It’s especially important to see a doctor about a bleeding disorder if you expect to have surgery, give birth, or have extensive dental work. Knowing your condition allows the doctor or surgeon to take precautions to prevent excessive bleeding.
Bleeding diathesis varies greatly in cause and severity. Mild disorders may not need treatment. Sometimes a specific diagnosis can be difficult.
It’s important to get diagnosed and treated as early as possible. There may not be a cure for particular disorders, but there are ways to manage symptoms.
New and improved treatments are under development. You may want to contact the National Hemophilia Foundation for information and local organizations concerned with different types of bleeding diathesis.
The Genetic and Rare Diseases Information Center of the National Institutes of Health also has information and resources.
Discuss a treatment plan with your doctor or specialist, and ask them about any clinical trials that you might join.