PNH can cause variety of symptoms. These can vary greatly from person to person. You may have many symptoms, or just one or two. And you may get a new symptom at any point in the course of your illness. The severity and number of symptoms are often related to the size of your PNH clone clone: To make copies. Bone marrow stem cells clone themselves all the time. The cloned stem cells eventually become mature blood cells that leave the bone marrow and enter the bloodstream. and how much blood cell destruction is happening.
Hemolysis
Hemolysis Hemolysis: (hi-MOL-uh-suss) The destruction of red blood cells. is the breaking apart of red blood cells. Hemolysis happens when the complement system complement system: A group of proteins that move freely in the bloodstream. These proteins support (complement) the work of white blood cells by fighting infections. , a part of your body’s immune system, becomes more active and attacks your PNH red blood cells. The complement is made of small proteins that attack foreign objects, such as viruses and bacteria. Because PNH cells are abnormal, they are seen as foreign and attacked, causing them to burst.
What are the symptoms of hemolysis?
When your PNH red blood cells break apart, their hemoglobin hemoglobin: A protein in the red blood cells. Hemoglobin picks up oxygen in the lungs and brings it to cells in all parts of the body. is released into your plasma plasma: The fluid part of the blood. Plasma is mostly made of water with chemicals in it. These chemicals include proteins, hormones, minerals, and vitamins. . Hemoglobin is the red part of red blood cells. Its carries oxygen around your body. The release of hemoglobin can cause a number of symptoms, including:
- Dark or tea colored urine, but it does not darken in all cases
- Low red blood cell count (anemia) which can cause you to:
- Feel tired
- Have headaches
- Have trouble breathing when you exercise
- Have an irregular heartbeat
- Muscle spasms in certain parts of your body. This happens when the released hemoglobin binds with
nitric oxide
nitric oxide:
(NIGH-trik OK-side) A molecule that helps muscles stay smooth and relaxed. A shortage of nitric oxide can occur in paroxysmal nocturnal hemoglobinuria (PNH), causing muscle spasms in certain parts of the body.
and removes it from your blood. Nitric oxide helps your muscles stay smooth and relaxed. When you have a shortage of nitric oxide, you may experience the following:
- Mild to severe pain in your abdomen or belly area.
- Spasms in your esophagus which is a "tube" in your throat that goes from your mouth to your stomach; the spasms can make it hard to swallow.
- Men may have trouble getting or keeping an erection (become impotent).
Thrombosis
Thrombosis Thrombosis: (throm-BOE-suss) A blood clot (thrombus) that develops and attaches to a blood vessel. is a blood clot blood clot: A mass of blood that forms when platelets stick together. Harmful blood clots are more likely to happen in PNH. The term thrombus describes a blood clot that develops and attaches to a blood vessel. The term embolus describes a blood clot or other foreign matter that gets into the bloodstream and… in a vein. It is often simply called a blood clot. At least 1 out of 3 people with PNH get blood clots.
Why are blood clots so common for people with PNH?
Scientists are not sure exactly why people with PNH are more likely to get blood clots. But some believe that PNH patients have abnormal platelets that are too "sticky." This means the platelets make clots too easily.
Many people with PNH have a shortage of nitric oxide. Nitric oxide helps prevent blood clots by making it harder for platelets to stick together. Hemolysis – another symptom of PNH – can cause a shortage of nitric oxide.
What are the symptoms of blood clots?
The symptoms of blood clots depend on where the clots occur. People who are otherwise healthy and do not have PNH sometimes get blood clots in the veins of the leg. People with PNH tend to get blood clots in other parts of the body, such as in the brain or abdomen (belly area).
Blood clot in abdomen (belly area)
You may get a blood clot in your abdomen, or belly area. That's the area below your chest and above your hips. Some places in the abdomen where you may get a blood clot include:
- Your spleen
- The major vein that leaves your liver; this is called Budd-Chiari syndrome Budd-Chiari syndrome: (bud-kee-AR-ee SIN-drome) A blood clot in the major vein that leaves the liver (hepatic vein). The liver and the spleen may become enlarged. Budd-Chiari syndrome can occur in PNH.
- Your intestine (bowel) may not get enough blood; this is called ischemia ischemia: (iss-KEE-mee-uh) Occurs when the blood supply to specific organ or part of the body is cut off, causing a localized lack of oxygen.
Symptoms of getting a blood clot in your abdomen may include:
- Having fluid and swelling in the belly area; this is called ascites ascites: (uh-SITE-eez) Extra fluid and swelling in the belly area (abdomen). Also called hydroperitoneum. .
- The area where the clot is may feel warm to the touch.
- The area where the clot is may be painful.
If the blood clot in your abdomen is not treated:
- Part of your intestine may die (dead bowel)
- Your liver may be damaged and stop working
Blood clot in brain
You may get a blood clot in the veins covering your brain. If this happens, symptoms may include:
- A very bad headache.
- Trouble speaking, seeing, or moving parts of your body.
Blood clot in skin
You may get a blood clot in the veins of your skin. If this happens, your skin in that area may get red, puffy, warm or painful
Blood clot in arm or leg
You may get a blood clot in the veins of your arm or leg. If this happens that limb may get warm, puffy or painful
Blood clot in lung
Sometimes, a blood clot breaks off and travels to your lung. This is called a pulmonary embolism pulmonary embolism: (PULL-muh-nerr-ee EM-buh-liz-um) A blockage of an artery that carries blood to the lungs. See Embolism. . If you have a pulmonary embolism, symptoms may include:
- A sharp pain in your chest; it may get worse when you breathe deeply
- Trouble breathing (shortness of breath), or you may start breathing fast
- Suddenly feeling anxious
- Coughing up some blood
- Feeling dizzy; you may even faint
- Sweating a lot
How do I find out if I have a blood clot?
To diagnose a blood clot, your doctor may take pictures of your insides using:
- CT scan CT scan: An imaging technique using x-ray technology and computerization to create a three-dimentional image of a body part. Also called a CT scan, it can be used to locate a blood clot in the body. (Cat Scan)
- MRI (Magnetic Resonance Imaging)
- Doppler scan
- V-Q Scan (Ventilation-Perfusion Scan)
Your doctor may also order a lab test called D-dimer D-dimer: A test that helps doctors find out if a person has a problem with blood clotting. . It is also called Fragment D-Dimer, or Fibrin degradation fragment.
Low Red Blood Cell Count
PNH will mostly cause low red blood cell red blood cell: The most numerous type of blood cell in healthy people. Red blood cells contain hemoglobin, a protein that picks up oxygen in the lungs and brings it to cells in all parts of the body. Also called erythrocyte, RBC. counts and anemia anemia: (uh-NEE-mee-uh) A condition in which there is a shortage of red blood cells in the bloodstream. This causes a low red blood cell count. Symptoms of anemia are fatigue and tiredness. . A low red blood cell count is called anemia. If you have a low red blood cell count, you may:
- Feel a little tired or very tired
- Feel less alert or have trouble concentrating
- Have a loss of appetite or lose weight
- Have paler-than-normal skin
- Have trouble breathing – shortness of breath
- Have rapid heartbeat
- Have difficulty exercising or climbing stairs
Low White Blood Cell Counts
A low white blood cell white blood cell: Cells in the body that fight disease and infection by attacking and killing germs. There are several types of white blood cells including neutrophils, eosinophils, basophils, lymphocytes and monocytes. Each type of cell fights a different kind of germ. Also called WBC, leukocyte. count is called neutropenia neutropenia: (noo-truh-PEE-nee-uh) A condition in which there is a shortage of neutrophils in the bloodstream. Neutrophils are a type of white blood cell. This results in a low white blood cell count. . In general, a low white cell count lowers an aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… patient’s ability to fight bacterial infections. If you have a low white blood cell count, you may:
- Have repeated fevers and infections
- Get bladder infections that make it painful to urinate or make you urinate more often
- Get lung infections that cause coughing and difficulty breathing
- Get mouth sores
- Get sinus infections and a stuffy nose
- Get skin infections
A fever in an aplastic anemia patient is potentially serious. A doctor should be notified if a fever occurs.
Low Platelet Counts
A low platelet platelet: The smallest type of blood cell. Platelets help the blood to clot and stop bleeding. Also called a thrombocyte. count is called thrombocytopenia thrombocytopenia: (throm-buh-sie-tuh-PEE-nee-uh) A condition in which there is a shortage of platelets in the bloodstream. This results in a low platelet count. Bleeding and bruising often occur with thrombocytopenia. . If you have a low platelet count, you may:
- Bruise or bleed more easily, even from minor scrapes and bumps
- Get heavier than normal menstrual periods
- Get nose bleeds
- Get tiny, flat red spots under your skin (petechiae) caused by bleeding
- Have bleeding gums, especially after dental work or from brushing your teeth.
If platelet counts are not too low, there may be no obvious symptoms. In rare cases, the number of platelets can get so low that dangerous internal bleeding occurs.
Bleeding that will not stop is a medical emergency. A PNH patient needs to seek immediate medical help if they have bleeding that can’t be stopped by usual methods, such as applying pressure to the area.