It’s estimated that 1 in 5,000 babies in the United States are born with hemophilia, according to the Centers for Disease Control and Prevention (CDC). (1) How would someone know if they had hemophilia, and when is the disorder usually diagnosed? Hemophilia can either be severe, moderate or mild depending on how little blood clotting factor someone produces. In most severe cases of hemophilia, the disorder will be diagnosed in a baby’s first year of life, or even during pregnancy. People with milder cases might not find out they have the disorder, or are a carrier for the genetic defect that causes it, until adulthood or when they become pregnant. In come cases, hemophilia will only be diagnosed after someone bleeds excessively following an injury, trauma or surgical procedure.
Hemophilia cannot be cured, but there are life-saving medications available that can replace missing blood clotting factor and help to control bleeding. Hemophilia symptoms can be managed by preventing injuries and falls, treating bleeds right away, and by making lifestyle changes such as eating well and exercising.
What Is Hemophilia?
Hemophilia is a disorder in which blood does not clot properly, leading to prolonged bleeding. The definition of hemophilia is “a hereditary, sex-linked blood defect occurring almost exclusively in males that is marked by delayed clotting of blood with prolonged or excessive internal or external bleeding.” (2)
Excessive bleeding is usually due to a deficiency in clotting factor VII — which is the case for hemophilia A, by far the most common type. Bleeding can occur after injury, surgery or sometimes spontaneously, causing blood to leak into joints, muscles, the mouth, nose and potentially the brain.
Hemophilia Symptoms & Signs
Types of Hemophilia
- Hemophilia A — Hemophilia A is four times as common as hemophilia B. Also called factor VIII hemophilia (FVIII), this type is usually caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome. Males are affected by hemophilia A much more often because they only have one X chromosome, while females have two. This means that if the factor VIII gene is missing on a boy’s only X chromosome, he will develop hemophilia A. Females are “carriers” of hemophilia A if they inherit one defective factor VIII gene. About half of people with hemophilia A have the severe form of hemophilia.
- Hemophilia B — Hemophilia B is also called factor IX (FIX) deficiency or Christmas disease. It is a genetic disorder caused by missing or defective factor IX, a clotting protein. Hemophilia B is four times less common than hemophilia A.
- Von Willebrand disease (VWD) —VWD is another blood clotting disorder that has similar symptoms to hemophilia. It is the most common bleeding disorder, affecting up to one percent of the U.S. population. Like hemophilia A and B, VWD is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. (3)
Hemophilia is broken down into three categories according to the severity of the disease: severe hemophilia (about 60 percent of all cases), moderate hemophilia (about 15 percent of cases), and mild hemophilia (about 25 percent of cases). Severity depends on what percent of the blood clotting factor someone is producing. Someone with severe hemophilia only produces about 1 percent of the factor compared to “normal” levels, while someone with mild hemophilia makes between 6–30 percent.
Hemophilia Symptoms (4)
- Bleeding for longer duration than normal (“prolonged” or “excessive bleeding”). This might happen due to injury, or spontaneously in severe cases. Spontaneous bleeding is the type that has no obvious trigger or cause and usually only affects people with severe cases (and less commonly those with moderate or mild cases).
- Internal bleeding, such as into joints and muscles. Bleeding might also occur in the mucous membranes of the nose and mouth, causing nosebleeds and bloody gums. The most commonly affected parts of the body are the knees, ankles and elbows, where bruises may develop due to trapped blood.
- External bleeding, such as from cuts, scrapes, minor dental procedures, injection sites, trauma, etc. Even mild cuts can cause lots of bleeding since little clotting occurs.
- Large or deep bruises
- Joint pain, tightness and swelling
- Blood in stool
- Blood in urine (hematuria)
- Rectal bleeding
- In women, menorrhagia (abnormally heavy menstrual periods) or possible hemorrhage during or after childbirth)
- In infants, unexplained irritability that is caused by discomfort
Hemophilia Causes & Risk Factors
Excessive bleeding caused by hemophilia is due to blood not being able to clot normally following an external or internal injury, since there is a missing or malfunctioning blood clotting factor. Normally, in people without blood clotting disorders, a “coagulation cascade” occurs that clots blood and helps stop bleeding. Tears in blood vessels, whether they are very small or large, cause blood to leak out into the surrounding tissues. The body reacts by releasing platelets, which clump together to stop the blood from leaking, and then clotting factors, which form a stronger clot.
This process involves proteins called coagulation factors (or clotting factors), one of which is factor VIII (or factor 8). People with hemophilia A do not make enough clotting factor VIII, so it takes longer to stop bleeding. (5)
- About two-thirds of the time, hemophilia is a genetic, inherited disease, so risk factors for acquiring hemophilia include: having a family history of hemophilia or other bleeding disorders, and being a male since males only have one X chromosome. Females can be affected by hemophilia, but it’s very rare.
- In about one-third of cases, hemophilia is caused by a spontaneous mutation, a change in a blood clotting gene that has nothing to do with inheritance.
- People of all races and ethnicities can be affected by hemophilia.
- Rarely, someone can develop “acquired hemophilia” if their immune system attacks their own clotting factors in their blood. This can be due to other health conditions including autoimmune diseases such as lupus, cancer, multiple sclerosis or even pregnancy.
Females can be carriers for hemophilia, but they do not usually display symptoms. Being a carrier means that the defective blood clotting gene can be passed down to the female’s children. When a woman who is a carrier gives birth to a son, the son will have a 50 percent chance of having hemophilia A. When a woman who is a carrier gives birth to a daughter, the daughter will have a 50 percent chance of being a carrier. Fathers cannot pass hemophilia on to their sons because the son only inherits a Y chromosome. Whenever a man with hemophilia has a daughter, the daughter will always be a carrier since she inherits an X chromosome from both parents.
Complications Due to Hemophilia
Severe hemophilia can be a serious health concern due to the potential for internal bleeding that damages vital organs, particularly the brain, and tissues. (6) Sometimes severe hemophilia is even life-threatening; this is rare but most likely to occur if internal bleeding affects the brain or if an injury causes bleeding that cannot be controlled. If the joints around an injury become very swollen, red and painful, there’s a chance it’s due to internal bleeding.
Signs and symptoms that internal bleeding is occurring in the brain can include:
- Headaches that last a long time and are very painful
- Unexplained lethargy, weakness, fatigue and sleepiness
- Nausea and vomiting
- Vision changes including double vision
- Dizziness and clumsiness
- Convulsions or seizures
- In infants, parents should watch for excessive irritability and sleepiness, irregular breathing, seizures, vomiting and difficulty feeding
Other than damaging joints and the brain, other complications that can potentially be caused by hemophilia include:
- Infection — Rarely, blood transfusions can cause infections/viruses such as hepatitis or HIV due to contaminated blood products. However, today this is very rare since blood is tested much more carefully.
- Adverse reaction to medications — Some people’s immune systems respond negatively to clotting factor treatments, causing inhibiting proteins to develop that interfere with how the medications work.
Diagnosis & Conventional Hemophilia Treatment
Patients with hemophilia are usually diagnosed by hematologists, or doctors who specialize in treating blood-related disorders. Diagnosis can be based on a combination of: discussing the patient’s family history and medical history, blood tests, performing tests to determine blood clotting time, and completing a clotting factor test, called an assay, that is used to determine the type and severity of hemophilia that someone has. Parents who have a known family history can also choose to have tests performed during pregnancy to determine if the fetus will be affected.
The most common way that hemophilia is treated is with injections of blood clotting factor proteins (called factor replacement therapy), which help to control bleeding.
People with hemophilia A typically use concentrated FVIII products, also called recombinant factor products. These are man-made in a lab and mimic the effects of natural blood clotting factors. Less commonly, plasma-derived FVIII products are used, which are human-derived or donor-sourced. Treatment for hemophilia B is typically concentrated FIX product.
- It’s estimated that about 75 percent of hemophilia A patients are treated with recombinant (laboratory made) FVIII products because they are believed to be safer. FVIII products work through intravenous infusions. They are usually infused into a vein in the arm or chest. Infusions can either be given at a doctor’s office, or if the patient prefers, administered on their own at home.
- A patient’s exact treatment protocol depends on the severity of their case. Children with severe hemophilia A are usually treated with a preventative protocol called prophylaxis, which keeps enough clotting factor in their bloodstream to prevent dangerous bleeds. Prophylaxis is a preventative therapy that involves infusions once or more per week. (7)
- Antidiuretic hormone medications are also used to control bleeding in people with milder cases. One example is DDAVP (desmopressin acetate), which is used in either injectable form or as a nasal spray.
- Before minor procedures, such as dental procedures, anti-fibrinolytic medications or a drug called aminocaproic acid can be used to prevent the breakdown of blood clots. These ares taken orally as a tablet or as a liquid to prevent bleeding in the mouth and nasal passageways.
There are federally-funded hemophilia treatment centers (HTCs) located throughout the United States that are prepared to help treat people with all severities of hemophilia. Patients are usually treated by a team of health care providers including hematologists, nurses, physical therapists, social workers and even dentists and dietitians who are familiar with hemophilia care. The National Hemophilia Foundation can connect you to a treatment center near you, as well as to support groups that can offer lots of valuable advice.
5 Natural Ways to Help Manage Hemophilia Symptoms
1. Prevent Falls & Accidents
Below are steps you can take to help prevent accidents, slips and falls that can lead to prolonged bleeding:
- Keep your home clear of any obstacles that can lead to falls or cuts.Remove all loose wires, cords and throw rugs. Keep floors and carpets free of clutter that might make you trip. Place items you use most often within easy reach. Keep your home well lit, and use a flashlight when walking outside in the dark.
- Clean walking paths around your home, such as by clearing your porch, deck, walkways and driveway. Keep a light on outside your front door. Keep stairwells well lit.
- If you have trouble getting around, use a walker or cane if needed. Get up slowly from sitting or lying down. Use handrails when climbing stairs.
- Wear sturdy, comfortable shoes that help you balance (sneakers, low-heeled shoes with rubber soles, boots, flats instead of heels, etc.).
- Be careful about walking on slippery roads or sidewalks after it’s rained or snowed. Avoid walking on wet, slippery, highly-polished marble or tile.
- Try not to rush around in a hurry, since this makes falling more likely.
- If your child has hemophilia, “baby proof” your home by covering up any sharp edges, putting gates across stairs, locking any drawers with sharp objects, installing carpet or buying rugs so the ground is cushioned, and putting bumper pads on the child’s crib. Some parents also use special knee and elbow pads on their children once they start crawling to prevent joint bleeds and pain. (8)
- It’s recommended that children and teens with hemophilia avoid risky activities like playing contact sports. Swimming, hiking, golf and other low-impact sports are better options. Children should always wear helmets when biking. Parents should use safety belts and straps in highchairs, car seats and strollers to prevent falls.
- Parents should inform not only the child about risks involved with certain activities, but also teachers, babysitters, friends’ parents and any other caregivers.
2. Use “RICE” to Manage Bleeds
RICE — which stands for for Rest, Ice, Compression, Elevation — is an abbreviation that is used to describe a protocol for controlling bleeds. (9)
- When bleeding occurs, rest the area and limit activities that put added pressure on the surrounding joints (such as an ankle, wrist, foot, etc.). Some people choose to use crutches, half-casts or splints to stabilize injured/wounded parts of the body.
- Ice can be applied to the injured area to reduce swelling and pain. You can either use ice packs wrapped in a thin towel or make your own by putting ice in a plastic bag. Ice the area for about 10–15 minutes (but not much longer) every two hours if possible.
- Apply pressure to the injured area in order to help stop bleeding from damaged blood vessels. Use a clean cloth, towel or gauze, hold it up against the cut and gently press. You can use an elastic bandage or Tubigrip® sleeve to wrap the affected area, but be careful removing the bandage if pain gets worse or swelling, coolness and tingling develop.
- Once bleeding stops, cuts/scrapes should then be covered with clean, new bandages to help them heal without an infection occurring.
- Elevate the affected area by raising it to a higher position that’s above the heart, helping to slow down blood flow. Use cushions, pillows, a chair, or piece of furniture to prop the body part up in a comfortable position.
3. Treat Joint Pain
If you’re experiencing joint pain, tenderness, warmth, limited mobility and swelling around an injured area, make sure your doctor is informed. He or she may recommend using the REST protocol described above. You might also need emergency care for internal bleeding that affects joints to prevent permanent tissue damage.
- After visiting your doctor or a hospital, apply ice to swollen joints to reduce inflammation. Coolness also helps promote clotting and can help decrease relieve pain.
- As long as you don’t have an open wound, you can try rubbing peppermint oil on achy areas to help dull pain.
- Stretching, gentle movement and physical therapy can also reduce joint stiffness and lack of mobility.
4. Find Relief from Headaches & Nosebleeds
Keep an ice or cold pack in your freezer so that one is always ready to use if you experience a minor nosebleed, bruising or other injury. Hold the cold pack up against your nose gently if you’re bleeding. Gently pinch the nose near the bridge, tilting the head down or forward while you use a cloth or paper towels to catch the blood. Apply pressure on the bridge of the nose to help slow the flow of blood. This will help a clot to slowly form in most cases. However, if the nosebleed continues for more than about one hour, call your doctor since this may require an infusion with blood clotting factor. (10)
If you’re bleeding inside your mouth, trying sucking on an ice pop/popsicle. Use the same approach as with nosebleeds: apply gentle pressure with a cloth to catch blood and monitor how long the bleeding lasts.
Migraines and strong headaches can point to internal bleeding and should always be treated, especially if you’re also experiencing swelling or enlargement around your head, dizziness, vomiting, or seizures. (11) To help treat minor headaches, try applying ice to the area of the head that hurts (such as between the eyes or the back/side of the head). Dab some peppermint oil on your temples or neck (but avoid open cuts). Resting, napping in a dark, quiet room, getting some fresh air while you walk outside, and meditating might help your head feel better.
5. Practice Healthy Lifestyle Habits
- Eat a healthy diet to control inflammation, help prevent swelling due to high sodium intake, and to maintain a healthy body weight. (12) Excess body weight and obesity further strain your joints and add pressure to delicate parts of the body that are trying to heal. Fill up on fresh veggies and fruits, clean proteins, healthy fats, and drink plenty of water. Avoid processed foods like those made with added sugar, refined grains, refined vegetable oils, and synthetic additives.
- Exercise regularly, which is beneficial for supporting joint health and reducing inflammation. Exercise is also necessary for general cardiovascular health and for a healthy immune system. If joint pain makes exercise hard, consider low-impact exercises like swimming, water aerobics, cycling or using an elliptical. (13)
- Get enough rest, especially after an injury, accident or traumatic event.
- Take care of your dental health by brushing your teeth twice per day, flossing, and avoiding foods/drinks with added sugar. Visit a dentist for routine cleanings — ideally one who is familiar with treating patients with hemophilia.
If you or your child experiences heavy, prolonged bleeding at any point (such as an injury or cut that won’t stop bleeding), always visit the emergency room. If you suspect you might have a mild case of hemophilia, talk to your doctor about being tested and discuss your family history.
Look out for warning signs of internal bleeding, such as into the brain, and get help right away if they occur. Finally, if you’re pregnant and have a known family history of hemophilia, consider genetic testing to see if your child will be affected. This way you can manage the disorder from a very young age.
Key Points about Hemophilia
- Hemophilia is a disorder in which blood does not clot properly, leading to prolonged bleeding. By far the most common type is hemophilia A, an inherited X-linked recessive trait that usually affects males.
- Females can be affected by hemophilia, but this is rare. More commonly females are carriers and can pass on the disorder to their offspring.
- Hemophilia symptoms include: bleeding for longer duration than normal (“prolonged” or “excessive bleeding”), internal bleeding (such as into joints, muscles, the mouth, throat or sometimes brain), large or deep bruises, joint pain or swelling, blood in stool, blood in urine (hematuria), rectal bleeding, nosebleeds and headaches.
- Hemophilia cannot be cured, but there are medications available that can replace missing blood clotting factor. This helps control bleeding and can be life-saving.
- When a bleed occurs, the affected area should be rested, iced, compressed and elevated (called the”RICE” protocol) to control blood loss.
5 Natural Ways to Manage Hemophilia Symptoms
- Preventing injuries and falls
- Practicing RICE as soon as possible after a bleed starts
- Treating joint pain with peppermint oil and gentle stretching
- Using natural remedies such as peppermint oil to ease headaches and nosebleeds
- Practicing healthy lifestyle habits
The post Hemophilia (+ How to Manage Hemophilia Symptoms 5 Natural Ways) appeared first on Dr. Axe.