Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and potentially life-threatening blood disorder characterized by the destruction of red blood cells (hemolysis), blood clots (thrombosis), and impaired bone marrow function. PNH is caused by a mutation in the PIG-A gene, which leads to a deficiency of certain proteins on the surface of blood cells. This deficiency makes the cells more susceptible to destruction by the body's immune system.
1. Hemolytic Anemia: The hallmark symptom of PNH is hemolytic anemia, which occurs due to the destruction of red blood cells. This can lead to fatigue, weakness, and shortness of breath. The anemia may worsen during periods of physical exertion or infection.
2. Dark Urine: Another characteristic symptom of PNH is the presence of dark-colored urine, which is caused by the release of hemoglobin from the destroyed red blood cells. The urine may appear brown, red, or cola-colored.
3. Thrombosis: PNH increases the risk of blood clots (thrombosis) in various parts of the body, including the veins of the abdomen, liver, and brain. Thrombosis can cause severe complications, such as stroke, heart attack, or organ damage. Symptoms of thrombosis may include sudden onset of severe headache, chest pain, shortness of breath, abdominal pain, or swelling in the legs.
4. Fatigue and Weakness: PNH can cause chronic fatigue and weakness due to the ongoing destruction of red blood cells and resulting anemia. Individuals with PNH may experience a general lack of energy and find it difficult to perform daily activities.
5. Abdominal Pain: Some individuals with PNH may experience abdominal pain, particularly if there is thrombosis in the veins of the abdomen. This pain may be intermittent or persistent and can be accompanied by other digestive symptoms like nausea, vomiting, or diarrhea.
6. Shortness of Breath: As PNH leads to anemia, a reduced number of healthy red blood cells can impair the oxygen-carrying capacity of the blood. This can result in shortness of breath, especially during physical exertion or when lying flat.
7. Frequent Infections: PNH can weaken the immune system, making individuals more susceptible to infections. Recurrent or severe infections, such as urinary tract infections or pneumonia, may occur more frequently in individuals with PNH.
8. Easy Bruising and Bleeding: PNH can cause a decrease in platelet count, leading to a higher risk of bleeding and easy bruising. Individuals may notice frequent nosebleeds, bleeding gums, or prolonged bleeding from minor cuts or injuries.
9. Erectile Dysfunction: In some cases, PNH can affect blood flow to the penis, leading to erectile dysfunction in males.
10. Other Symptoms: PNH can also present with other less common symptoms, including back pain, muscle weakness, dark circles under the eyes, and difficulty swallowing.
If you experience any of these symptoms or suspect you may have PNH, it is important to consult a healthcare professional for a proper diagnosis and appropriate management.