Rare Bleeding Disorders

In last week's post, we discussed nutrition to honor National Nutrition Month. Today, we're talking about another important March event; Rare Bleeding Disorders Awareness.

With bleeding disorders, the blood does not clot properly, which can lead to uncontrolled bleeding. This can be painful and even life-threatening in some situations. Although shallow cuts and scrapes are not generally of concern, internal and prolonged bleeding after surgical procedures can be serious.

These diseases can be complex. Treatment often requires collaboration from a team, including doctors and nurses, physical therapists, geneticists, and social workers for comprehensive care.

According to UniteForBleedingDisorders.org, over 400,000 people worldwide suffer from bleeding disorders. About 70% of those people don't have access to treatments. In addition, some bleeding disorders such as von Willebrand disease, often go un- or misdiagnosed.

Although they are often inherited, bleeding disorders can also be caused by a gene mutation, which means a diagnosis might come as a surprise. For example, as many as a third of hemophilia cases involve no family history of the disease. Blood testing for these conditions is not generally considered routine, so being aware of the symptoms can help you determine whether or not to talk to your doctor about getting tested.

Bleeding Disorders

Hemophilia, the best-known bleeding disorder, is rare and usually inherited. In this disorder the blood doesn't clot properly due to a deficiency in certain clotting factors, primarily factor VIII or IX, causing prolonged bleeding after injuries or even spontaneously. 

Although this disease is more prevalent in boys and men, it also affects women and girls. Symptoms can include easy bruising, prolonged bleeding, nosebleeds, bleeding gums, and heavy menstrual bleeding. 

While hemophilia is the most well-known bleeding disorder, Von Willebrand Disease is the most common one. Also rare and often inherited, it's characterized by defective platelet adhesion and a secondary coagulation defect that manifests as abnormal bleeding of varying severity. This bleeding can also occur either spontaneously or in association with an invasive procedure. 

Factor XIII Deficiency (Congenital Factor XIII Deficiency) is a rare, autosomal recessive bleeding disorder where the body lacks sufficient Factor XIII, a protein essential for blood clotting and wound healing. The symptoms include umbilical cord bleeding at birth, intracranial bleeding, abnormal wound healing, recurrent miscarriages in women,

superficial bruising, and subcutaneous hematomas. 

Autosomal means affecting any chromosome that is not a sex chromosome. Autosomal disorders can affect either sex equally.

Another bleeding condition is Factor V Deficiency (Parahemophilia). This is a disorder where the body lacks sufficient Factor V, another crucial clotting factor. Symptoms of this disease are nosebleeds, bruising, excessive menstrual bleeding, bleeding from mucous membranes, and bleeding after surgical procedures.

Factor II Deficiency (Prothrombin Deficiency) is an autosomal recessive bleeding disorder where the body lacks sufficient Factor II (prothrombin), a protein involved in blood clotting. The symptoms of this disorder consist of excessive menstrual bleeding, easy bruising, and hemorrhage after trauma. 

Congenital Fibrinogen Deficiency (Afibrinogenemia/Hypofibrinogenemia/Dysfibrinogenemia)

is a rare inherited bleeding disorder where the body has a complete absence (afibrinogenemia), reduced levels (hypofibrinogenemia), or an abnormal form (dysfibrinogenemia) of fibrinogen, a protein essential for blood clot formation. Its symptoms include bleeding from the umbilical cord or after circumcision (in newborns), easy bruising, nose and mouth bleeds, soft tissue bleeds, joint and muscle bleeds, and excessive menstrual bleeding in women. 

Other Rare Bleeding Disorders include Factor X Deficiency (Stuart-Prower Disease), a rare deficiency that can cause bleeding with injury or surgery, and Factor XII Deficiency (Hageman Factor Deficiency), an often inherited disorder where there is no expected bleeding with this deficiency. 

Factor XIII (FXIII) deficiency, the rarest bleeding disorder, occurring in 1 in 5 million, can manifest with symptoms like persistent umbilical cord bleeding, easy bruising, nosebleeds, and bleeding after surgery or trauma, with women potentially experiencing heavy periods and recurrent miscarriages.

If you or someone you know is experiencing symptoms of a bleeding disorder, it's crucial to seek medical advice and diagnosis from a healthcare professional.

A Word about Women

Girls and women have been historically underrepresented in bleeding disorders research resulting in delayed diagnosis and care. While some organizations are working to change this, including the PRIDE (Patient-centered Research for Innovation, Development, and Education) from the Hemophilia Federation Association, spreading awareness and advocation is still vitally needed.

Underrepresented and underserved individuals suffering from rare bleeding disorders may have difficulty getting a timely diagnosis or accessing consistent care. You can learn more about advocating, symptoms, and treatment at https://www.hemophiliafed.org, https://www.uniteforbleedingdisorders.org, and https://www.bleeding.org.

Next week, we'll talk about restorative yoga. This gentle form of yoga can be useful to people suffering from chronic conditions, such as bleeding disorders, as well as managing stress, anxiety, and enhancing overall health. Until then, take good care of yourself and stay centered on wellness.