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PNH – Signs, Causes, and Diagnosis

Hemoglobinuria is a disorder marked by the breakdown of red blood cells that results in the presence of hemoglobin in the urine. The blood is impacted by paroxysmal nocturnal hemoglobinuria (PNH), a rare and potentially fatal illness. Dark urine, exhaustion, and abdominal pain are signs of PNH. We will examine the causes, symptoms, and possible treatments for nocturnal hemoglobinuria in this article, along with its signs and symptoms. 

If you are wondering “what signs of paroxysmal nocturnal hemoglobinuria are and how I can treat it,” keep reading.

PNH – Signs, Causes, and Diagnosis

Signs of nocturnal hemoglobinuria
Nocturnal hemoglobinuria symptoms can range in intensity and may take time to appear. Common signs of nocturnal hemoglobinuria include:

  • Hemoglobinuria
    The defining sign of PNH is the presence of hemoglobin in the urine. The color of the urine can be red, brown, or black.
  • Fatigue
    PNH can make you tired because it destroys red blood cells, which can cause anemia.
  • Abdominal pain
    PNH may induce stomach pain, particularly in the region surrounding the liver.
  • Swallowing problems
    PNH might make swallowing difficult because of esophageal hypertrophy.
  • Breathlessness
    PNH can result in breathlessness brought on by anemia or blood clots.
  • Headaches
    PNH may result in headaches because of the brain’s shortage of oxygen.
  • Back discomfort
    NH can result in back pain because it damages the kidneys and red blood cells, which leads to back pain.

Pale skin, a quick heartbeat, easy bruising or bleeding, and a propensity for blood clots are some other signs of PNH. It’s crucial to remember that not everyone with PNH disease will experience all these symptoms, and some may suffer other symptoms not included in this list. A healthcare provider should be consulted if you experience these symptoms because they can also be signs of other underlying illnesses.

PNH can cause health consequences like kidney failure, liver disease, and blood clots if it is not addressed. And if you think, “Do I have paroxysmal nocturnal hemoglobinuria?” seeing a doctor is essential. A healthcare expert can conduct tests to diagnose PNH disease and develop an effective management plan to control the condition and prevent complications.

Nocturnal hemoglobinuria causes
A genetic mutation in the PIGA gene, which codes for producing the phosphatidylinositol glycan class A (PIG-A) protein, results in nocturnal hemoglobinuria (PNH). The creation of glycophosphatidylinositol (GPI) anchors, which bind proteins to the cell membrane, is facilitated by this protein.

The mutation results in a lack of GPI-anchored proteins essential for the healthy operation of platelets, white blood cells, and red blood cells. Without these proteins, the cells are more vulnerable to being destroyed by the immune system’s complement system, which aids in the eradication of bacteria and other foreign elements.

Red blood cells are destroyed when GPI-anchored proteins are missing, releasing hemoglobin into the blood and urine and resulting in hemoglobinuria. Anemia, exhaustion, and other symptoms can result from the breakdown of red blood cells. An increased risk of infections and blood clotting can result from platelets and white blood cells lacking GPI-anchored proteins.

Rarely, PNH may be acquired as opposed to inherited. Secondary PNH can come from underlying conditions such as aplastic anemia or myelodysplastic syndrome and cause a loss of GPI-anchored proteins in blood cells. In general, secondary PNH is less severe than the inherited form of the illness.

Paroxysmal nocturnal hemoglobinuria diagnosis
Several steps involved in paroxysmal nocturnal hemoglobinuria diagnosis include a physical examination, a review of the patient’s health history, and laboratory tests.

Physical examination
A licensed professional conducts a physical exam to check for PNH symptoms, including stomach pain, tiredness, and dark urine.

Review of health history
A healthcare professional reviews the patient’s health background for any PNH or associated disorders that may have run their course in the family.

Laboratory tests
The following lab tests may be requested to identify PNH:

  • Complete blood count (CBC)
    A total blood count (CBC) counts the number of platelets, white blood cells, and red blood cells in the blood. PNH frequently results in a decrease in red blood cells and an increase in platelets, white blood cells, and other blood components.
  • Tests for hemoglobin and hematocrit
    This test checks the number of red blood cells and hemoglobin in the blood. Both hemoglobin and red blood cells frequently decline in PNH.
  • Reticulocyte count
    This examination counts the quantity of developing red blood cells in the body. The reticulocyte count is frequently increased in PNH.
  • Flow cytometry
    By using flow cytometry, it is possible to determine if the red, white, and platelet cells’ surfaces are devoid of particular proteins. These proteins are insufficient in PNH.
  • Urine test
    A urine test can identify the presence of hemoglobin, a defining PNH symptom, in the urine.
  • Bone marrow biopsy
    A bone marrow biopsy may  occasionally be required to confirm paroxysmal nocturnal hemoglobinuria. Bone marrow biopsy entails extracting a sample of bone marrow from the hip bone and looking for abnormal cells under a microscope.

Additional tests might be required to assess the severity of the disease and choose the best course of action if PNH disease is confirmed.

Bottomline
A genetic mutation known as nocturnal hemoglobinuria (PNH) results in a lack of GPI-anchored proteins, an uncommon disorder that can cause red blood cell death and an increased risk of infections and blood clotting, among other symptoms. If you are seeing signs of nocturnal hemoglobinuria, getting expert help is critical. PNH can be treated with prescription treatments, blood transfusions, and bone marrow transplants, among other methods.

Disclaimer:
The content of the articles discussing symptoms, treatments, health conditions, and side effects is solely intended for informational purposes. It is imperative that readers do not interpret the information provided on the website as professional advice. Readers are requested to use their discretion and refrain from treating the suggestions or opinions provided by the writers and editors as medical advice. It is important to seek the help of licensed and expert healthcare professionals when necessary.
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