Understanding the Symptoms and Treatments of Hemophilia
In healthy people, bleeding typically results in blood pooling together and clotting, which puts a relatively short end to the problem. In people who suffer from hemophilia, however, levels of important blood proteins called clotting factors are too low, which can result in uncontrollable bleeding both externally and internally. Although it is a largely inherited disorder, the condition is acquired in approximately 30 percent of cases. Therefore, it pays to be aware of the symptoms and to act quickly if it is a concern.
According to the National Hemophilia Foundation, approximately one out of every 5,000 males born in the U.S. has hemophilia A, the most common type of the disease.1 It is estimated that approximately 20,000 people in the U.S. are living with hemophilia. Around the world, the figure may be as high as 400,000.
What is Hemophilia?
Hemophilia is a rare, typically inherited disorder that is characterized by blood that does not clot normally.2 This is usually because the blood is missing crucial blood-clotting proteins, or clotting factors, that allow blood to clot quickly in healthy individuals. For those who suffer from hemophilia, minor cuts aren’t too big of a concern. The real risk lies in deep internal bleeding — particularly in the ankles, knees, and elbows — that can cause serious damage to tissues and organs and can even cause death.
Symptoms and Causes
When a healthy person bleeds, their body works to pull blood cells together. This causes a clot to form, and the bleeding subsides. A deficiency in special blood proteins called clotting factors is typically to blame, and this trait is usually inherited across most of the several types of hemophilia that exist.
However, around 30 percent of the time, the disease occurs in individuals who have no family history of hemophilia. In such cases, spontaneous mutations in genes that are associated with hemophilia occur. Acquired hemophilia often occurs when the immune system attacks clotting factors, which most commonly occurs with conditions like cancer, autoimmune disorders, pregnancy, and multiple sclerosis.
Spontaneous bleeding is one of the biggest risks associated with hemophilia. Common symptoms of spontaneous bleeding include:
- several large, deep bruises across body
- excessive or unexpected bleeding from injuries and cuts
- blood in the urine or stool
- tightness, swelling, and pain in the joints
- unexplained irritability in infants
- unexplained nosebleeds
Another major risk that is associated with hemophilia is bleeding in the brain, which can occur from something as simple as a small bump to the head and can lead to death. Symptoms of bleeding in the brain include:
- convulsions or seizures
- sudden weakness or clumsiness
- repeated vomiting
- a painful and prolonged headache
- sleepiness or lethargy
- double vision
Treatments and Side Effects
Replacement therapy is the most common treatment for most types of hemophilia. Different types of hemophilia are associated with decreased levels of different clotting factors, and replacement therapy involves replacing the specific clotting factor that is missing. This is done through a tube that is inserted in a vein and can be used to address bleeding that is in progress or on a regular basis as a preventive measure. Nausea, headache, and dizziness are common side effects.
Additional treatments for hemophilia include:
- Clot-preserving medications: Also known as anti-fibrinolytics, these medications help to keep clots from being broken down.
- Desmopressin: Sometimes referred to as DDAVP and most effective for mild cases of hemophilia, this treatment uses a hormone that stimulates the release of more clotting factors. It may be injected slowly into a vein, or it may be administered via nasal spray.
- Fibrin sealants: To control active bleeding, doctors often recommend fibrin sealants to patients who suffer from hemophilia. These bandages help to promote healing and clotting, and they are most commonly used in dental scenarios.
- First aid for small cuts: For most people who suffer from hemophilia, small cuts do not pose too much trouble. They can often be managed by applying a bandage and pressure to the site of the bleeding. If bleeding is happening below the skin, an ice pack may be applied.
- Vaccinations: Although the risk of acquiring infections from replacement therapy has been waning with the increased availability of clotting factors that are derived from non-human sources, most people who have hemophilia are advised to receive vaccinations for hepatitis A and hepatitis B as a precautionary measure.
- Physical therapy: Hemophilia often causes damage to the joints of the body. In many cases, regular physical therapy can help to ward off the worst aspects of this symptom. However, when the problem becomes too severe, surgery is typically required.
Because there is no cure for hemophilia, those who suffer from it are advised to make certain lifestyle changes that reduce their risk of serious or even life-threatening symptoms. These precautionary steps can go a long way toward allowing someone who suffers from hemophilia to lead a healthy, happy life. If one believes that they may have hemophilia, their doctor is likely to recommend some or all of the following:
Avoiding certain pain relievers
Some of the most popular over-the-counter pain medications today are also known to thin the blood and to potentially increase the risk of uncontrolled bleeding. This applies to aspirin and ibuprofen. Acetaminophen, however, is safe to use.
Getting regular exercise
Low-impact cardio exercises that help to build and tone muscles are highly recommended for people who suffer from hemophilia. Great examples of these include walking, swimming, and cycling. This reduces the risk of becoming injured or potentially cut, which could cause serious problems.
Practicing good dental hygiene
One thing that anyone who suffers from hemophilia needs to avoid is having a tooth extracted. This can pose serious problems due to the deficiency of certain clotting factors. In particular, it can lead to uncontrolled bleeding. Therefore, those who suffer from hemophilia should be especially diligent about their dental hygiene. Brush and floss twice daily and visit the dentist at least twice a year for cleanings and exams.
Avoiding blood-thinning medications
People who suffer from hemophilia must avoid blood-thinning medications at all costs. Common examples of these medications include warfarin and heparin. If a person suffers from hemophilia, it is crucial to ensure that any medical providers that they work with are aware of that fact. One might even consider wearing a medical ID bracelet as a precautionary measure.
Protecting small children from injuries
All parents strive to shield their children from physical harm, but it’s especially important for parents of kids who suffer from hemophilia. Small children, in particular, are at increased risk of injuries that can precipitate uncontrollable bleeding. Therefore, most doctors recommend that parents equip their kids with things like knee pads, elbow pads, and helmets any time that they are out-and-about and could potentially become banged up.
Several exciting advances are being worked on in the fight against hemophilia.3 One example involves the increased use of genetically manufactured clotting factors that contain little to no human blood, which decreases the risk of infection. Technologies that were once used to destroy viruses in human blood are now used to virtually eliminate the risk of HIV and hepatitis C from clotting factors.
Another excitement development was published in the New England Journal of Medicine recently. Researchers at NHS in London are working on a method for inserting better-functioning factor VIII and factor IX genes into the cells of people with hemophilia. Studies have been promising; more than one year later, those who received the gene therapy continued to have normal or near-normal levels of the crucial factor VIII clotting factors. All that is needed is a single infusion, so this is promising news for those who suffer from the disease.4