Conditions We Treat

Hemophilia is a rare bleeding condition that results from reduced levels of clotting factor VIII for Hemophilia A or clotting Factor IX for hemophilia B. Hemophilia is inherited and affects fewer than 20,000 individuals in the United States. All races and ethnic groups are effected equally.

This disorder can be mild, moderate, or severe depending on how much of the clotting factor is in a person’s blood. People with hemophilia bleed for a longer period of time than people without hemophilia because they often cannot form a normal clot. Bleeding can happen anywhere in the body but most often it occurs in muscles, joints, and soft tissues. People with hemophilia can have surgery, but a hematologist that is very familiar with the disease must closely manage surgical procedures in order to reduce bleeding complications.

Hemophilia is a complex disorder and requires quality medical care from doctors and nurses who know a lot about the disorder. Hemophilia Treatment Centers, like GSHTC, are specialized health care centers that bring together a team experienced in treating people with hemophilia. Treatment for hemophilia has advanced over the past 20 years and today people with hemophilia can have a normal life span if they treat bleeding episodes and use preventive therapies.

Acquired hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with a personal and family history negative for hemorrhages. Autoimmune disorders occur when the body’s immune system mistakenly attacks healthy cells or tissue. In AH, the body produces antibodies (known as inhibitors) that attack clotting factors, most often factor VIII. Clotting factors are specialized proteins required for the blood to clot normally. Consequently, affected individuals develop complications associated with abnormal, uncontrolled bleeding into the muscles, skin and soft tissue and during surgery or following trauma. Specific symptoms can include nosebleeds (epistaxis), bruising throughout the body, solid swellings of congealed blood (hematomas), blood in the urine (hematuria) and gastrointestinal or urogenital bleeding. AH can potentially cause severe, life-threatening bleeding complications in severe cases. In approximately 50% of patients, there is an identifiable underlying clinical condition; in the other 50% no cause is known (idiopathic).

Von Willebrand Disease (VWD) is a genetic disorder caused by missing or defective clotting proteins called von Willebrand factor (VWF). VWD occurs equally in men and women and it is the most common bleeding disorder, affecting up to 1% of the US population.

Easy bruising, frequent and prolonged nosebleeds, and excessive bleeding during and after invasive procedures are common symptoms of VWD. Women with VWD often experience heavy menstrual bleeding and excessive bleeding after childbirth.

The best place for treatment for VWD is at a Hemophilia Treatment Center, like GSHTC, who provide comprehensive care from skilled hematologists and other professional staff members. The treatment for VWD depends on severity and may include a medication called DDAVP and Intravenous infusion of (VWF). Additionally the use of antfibrinolytic drugs like aminocaproic acid (Amicar) or tranexamic acid (Lysteda) taken by mouth are often recommended before dental procedures, to treat nose and mouth bleeds, and for heavy menstrual bleeding.

Defects in platelet function comprise a heterogeneous group of disorders with bleeding symptoms ranging from mild bruising to severe mucocutaneous hemorrhage. Platelet function disorders can be classified according to their relationship to one or more of the stages of platelet thrombus formation, each of which is mediated by specific platelet membrane receptors. Rare genetic variants of these receptor genes can cause defects in platelet adhesion, activation, granule release, prothrombinase activity, aggregation, or clot retraction. Many of these disorders share common treatments, but some therapies have a greater efficacy for one patient relative to another and should be individualized to provide optimal symptom control. Currently, efforts are concentrated on developing methods to rapidly and accurately diagnose patients with platelet function disorders, taking advantage of accumulated and curated databases of genetic variants in candidate genes, and to improve therapy to prevent life threatening bleeding.

Factor II (FII) deficiency, also called prothrombin deficiency, was first identified in 1947 by Dr. Armand Quick. The incidence is estimated at 1 in 2 million in the general population. Factor II deficiency is inherited in an autosomal recessive fashion, meaning that both parents must carry the gene to pass it on to their children; it affects men and women equally.

Prothrombin is a precursor to thrombin, an enzyme that converts fibrinogen into fibrin to strengthen a clot. Dysprothrombinemia results when there is an abnormality in the structure of prothrombin. Hypoprothrombinemia occurs when the body doesn’t produce enough prothrombin. Symptoms include excessive umbilical cord bleeding, easy bruising, frequent nosebleeds and hemorrhaging after surgery or trauma. Women with FII deficiency experience menorrhagia, heavy menstrual bleeding, and postpartum hemorrhage after childbirth. Joint bleeding is uncommon.

Factor V (FV) deficiency was first described in a Norwegian patient in 1943 and reported by Dr. Paul Owren in 1947. Its incidence is about 1 in 1 million; fewer than 200 cases have been documented worldwide. It should not be confused with factor V Leiden, a clotting disorder.

The FV protein is a catalyst, accelerating the process by which prothrombin is converted to thrombin, the initial step in clot formation. FV deficiency is usually inherited in an autosomal recessive fashion, meaning both parents must carry the gene to pass it on to their children; it affects men and women equally.

Common characteristics of FV deficiency are bruising, bleeding under the skin, and nose, gum and mouth bleeds. Babies with severe FV deficiency are at increased risk of intracranial hemorrhage, or bleeding in the brain. People with severe FV deficiency can also experience bleeding in the lungs and gastrointestinal tract, which can be life threatening. Women frequently have menorrhagia, long, heavy periods.

Factor VII Deficiency is a rare bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII. This is an inherited disease, which varies in severity among affected individuals. The signs, and symptoms of this condition can begin at any age, however the most severe cases are apparent in infancy. Up to one-third of people with factor VII deficiency never have any bleeding problems. Common symptoms of factor VII deficiency include nosebleeds (epistaxis), easy bruising, bleeding of the gums or excessive bleeding following surgery or physical injury. Occasionally people with this diagnosis experience bleeding into joint spaces (hemarthrosis) and blood in the urine (hematuria). Many women with factor VII deficiency have heavy or prolonged menstrual bleeding. Patients with severe factor VII deficiency have an increased risk of bleeding inside the skull or in the gastrointestinal tract, which can be life threatening. Treatment depends on the severity of the disease and might include factor VII replacement by an intravenous infusion. Factor VII deficiency is caused by mutations of the F7 gene and is inherited as an autosomal recessive disorder.

Factor X deficiency is a rare genetic blood disorder that causes the normal clotting process (coagulation) to take longer than normal. This causes people to bleed for a longer of amount of time. Factor X is a clotting protein (also called a clotting factor). Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Clotting requires a series of reactions to ultimately form a clot to plug a wound. This is referred to as the clotting (coagulation) cascade. The clotting cascade involves different substances in addition to clotting factors. Factor X, which is produced (synthesized) in the liver, eventually interacts with other clotting factors and certain cells or substances, e.g. platelets or fibrinogen, to help to form a clot. Factor X deficiency is caused by a variation (mutation) in the F10 gene. In 2015, the U.S. Food and Drug Administration (FDA) approved a drug called Coagadex for adults and children over 12. This medication restores functional factor X levels.

Factor XI deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor XI. Factor XI is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood solidifies like glue to plug the site of a wound to stop bleeding. Individuals with factor XI deficiency do not bleed faster or more profusely than healthy individuals, but, because their blood clots poorly, they may have difficulty stopping the flow of blood from a deep or surgical wound. This may be referred to as prolonged bleeding or a prolonged bleeding episode. The severity of symptoms in factor XI deficiency can vary from one person to another and is not clearly related to the blood factor XI level. In most patients, prolonged bleeding episodes only occur after surgery, dental procedures or trauma. Bleeding tendencies in factor XI deficiency are unpredictable and inconsistent, making the disorder difficult to manage in some cases. Factor XI deficiency is caused by disruptions or changes (mutations) to the F11 gene and can occur in males and females. Hemophilia Treatment Centers, like GSHTC, specialize in factor XI deficiency to provide individualized treatment, monitoring, and follow up.

Factor XIII deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor XIII deficiency form blood clots like normal, but these clots are unstable and often break down, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the body and is known to play a role in proper wound healing and pregnancy. The severity of factor XIII deficiency bleeds can vary greatly from one person to another. Some individuals may have only mild symptoms; other individuals may have severe, life-threatening bleeds. With early diagnosis and prompt treatment, the more serious bleeds of factor XIII deficiency can be avoided. FXIII consists of two subunits: subunit A and subunit B. Most of the Factor XIII deficiency states are caused by mutations in subunit A; very few have a mutation in subunit B. Factor XIII deficiency is inherited as an autosomal recessive disorder.

Plasminogen activator inhibitor-1 (PAI-1) deficiency is a rare inherited autosomal recessive bleeding disorder characterized by excessive clot lysis leading to a lifelong moderate bleeding diathesis. PAI-1 is an essential protein critical in down-regulation of the fibrinolytic pathway.

Decreased PAI-1 activity may be caused by qualitative or quantitative defects. PAI-1 deficiency is a mild to moderate delayed bleeding disorder. The most common bleeding symptoms include those following surgery, injury, or trauma and in women include menorrhagia, rarely hemorrhagic rupture of ovarian cysts, antenatal bleeding and post-partum hemorrhage.

Factor I (Fibrinogen) deficiency is a collective term for three rare inherited fibrinogen deficiencies. It was first described in 1920 by two German physicians. Fibrinogen helps platelets stick together to form the initial “plug” after an injury. Fibrinogen deficiencies can be quantitative or qualitative, depending on whether the fibrinogen is deficient or defective. The quantitative disorders are afibrinogenemia, when fibrinogen is absent, and hypofibrinogenemia, when some protein with normal structure is present but below levels needed for normal clotting. Dysfibrinogenemia is a qualitative disorder in which normal amounts of fibrinogen are manufactured by the liver, but they don’t clot properly.

Factor I deficiency is inherited in an autosomal recessive fashion, which means that both parents must carry the gene to pass it on to their children; it affects men and women equally. Afibrinogenemia is very rare, occurring in 1-2 people per million. Dysfibrinogenemia is inherited in an autosomal dominant manner, which means that only one parent must carry the gene to pass it on to a child. Hypofibrinogenemia can be inherited in either manner.

Afibrinogenemia and hypofibrinogenemia are usually diagnosed in newborns who exhibit excessive bleeding from the umbilical cord and after circumcision. Easy bruising, nose and mouth bleeds, and soft tissue bleeds are common. Joint and muscle bleeds can also occur. Women with afibrinogenemia typically have menorrhagia (long, heavy periods) and difficulties carrying a baby to term because fibrinogen plays a role in embryo implantation. People with dysfibrinogenemia experience prolonged wound healing and are at increased risk of blood clots in the veins.

Qualitative Platelet Disorder (QPD) is a disorder effecting the structure or function of platelets. Patients with this disorder will have an adequate number of platelets but poor “quality” of clotting. The primary function of platelets are adhesion, aggregation, activation and secretion and a defect in any one of these functions will result in an increased tendency to bleed. Common causes of QPD include a missing or defective protein on the surface of the platelet membrane or a deficiency or abnormality in the platelet granules or their contents (also known as a ‘storage pool disorder’).

Symptoms of a QPD are easy bruising, nosebleeds, bleeding of the mouth or gums, heavy menstrual bleeding, postpartum (after childbirth) bleeding, bleeding following dental work, and bleeding with invasive surgical procedures.

GSHTC offers a high level of coordinated care for patients with QPD. There are many way to treat symptoms of QPD that is dependent on the underlying problem. We have clinicians who are experts in treating QPD and providing support to patients.