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Paroxysmal nocturnal hemoglobinuria – Causes, symptoms, and management

Paroxysmal nocturnal hemoglobinuria – Causes, symptoms, and management

Paroxysmal nocturnal hemoglobinuria (PNH) is a condition affecting the blood. It happens when the immune system wrongly attacks and harms red blood cells, white blood cells, and platelets. The term paroxysmal means abrupt, nocturnal refers to nighttime, and hemoglobinuria indicates the presence of dark-colored urine due to hemoglobin. This disorder can develop in individuals of any age, but it’s more common among those in their 30s and 40s. Read on to learn more about the condition.

Causes
The causes of PNH include:

Genetic change
Paroxysmal nocturnal hemoglobinuria is a condition where the body’s blood cells lack a crucial gene known as PIG-A. This particular gene plays a vital role in protecting red blood cells, but without it, the cells break down too quickly. This causes hemoglobin to leak into the blood, which then passes through urine. It’s important to note that this disorder is not inherited from parents and typically develops after birth.

Weakened bone marrow
PNH may also occur in people who have an underlying bone marrow dysfunction. Aplastic anemia or myelodysplastic syndrome causes weakening of the bone marrow.

Symptoms
The signs and symptoms of Paroxysmal Nocturnal Hemoglobinuria can differ significantly from person to person as they are influenced by the individual’s healthy red blood cell count.

Red, brown, or dark urine
Red, brown, or dark urine at night or in the morning is a primary symptom that signals the breakdown of red blood cells.

Shortness of breath and fatigue
People might also experience symptoms of anemia, such as shortness of breath and fatigue, especially during physical activity.

Abdominal pain
In cases where there is a rapid breakdown of red blood cells, individuals may also encounter abdominal pain.

Difficulty swallowing
In severe cases, one may also experience difficulty swallowing.

Easy bleeding or bruising
PNH can cause bleeding or bruising more frequently following minor injuries.

Blood clots (thrombosis)
As a result of the disorder, some people may develop blood clots in the body. The blood clots usually develop in the belly area and the back with noticeable symptoms of swelling and pain. These clots pose a risk of complications and even death.

Treatments
The treatment plan for paroxysmal nocturnal hemoglobinuria depends on the severity of the symptoms and may include the following:

Blood transfusions
If individuals with PNH have a low blood count, they may undergo blood transfusions to alleviate symptoms resulting from the breakdown of red blood cells.

Bone marrow transplantations
For individuals with PNH, bone marrow transplantation is a possible treatment option. This involves destroying the existing bone marrow through chemotherapy, radiation, or a combination of both. Then, healthy bone marrow from a donor is transplanted through IV.

People with PNH who do not have symptoms or complications can take steps to improve their overall health and prevent flare-ups. Living a healthy lifestyle with complementary therapies such as acupuncture and meditation can help ease the difficulties associated with PNH.

Conclusion
Paroxysmal nocturnal hemoglobinuria can be diagnosed with a flow cytometry test and a few other examinations. It is important to seek treatment from an experienced specialist as this disorder can significantly impact one’s quality of life. Early medical intervention is crucial to prevent life-threatening complications.