Your urine color hides a dangerous disease? Discovering PNH

When you get up in the middle of the night, do you notice the color of your urine? However, this is an important indicator for those who live with a rare disease called paroxysmal nightly hemoglobinuria (PNH). This condition affects red blood cells (red blood cells) and can lead to a variety of severe symptoms, from blood clots to a higher risk of infection.
In fact, the name itself offers an idea of ​​the condition. Paroxysmal means sudden and nocturnal means night, and Hemoglobinuria It means blood in the urine. In individuals with PNH, red blood cells become abnormally sensitive to the body’s immune system. This occurs due to a mutation in a gene called Piga. Due to its rarity, the exact incidence is unknown, however, it is estimated that the global prevalence is 15.9 individuals for one million people.
The pnh pnh mutation causes red blood cells to decompose (or hemolyze) too easily, especially during the night, releasing hemoglobin in the bloodstream. This can lead to a series of symptoms, many of which may initially seem mild or not related, such as dark color, fatigue and inexplicable bruises. The paroxysmal aspect of PNH refers to the fact that these symptoms can come and come, often, people with PNH can have a time section where they feel completely normal. However, without adequate diagnosis and management, PNH can lead to serious complications.

Signs and symptoms

PNH can develop at any age, from early childhood to late adulthood. Records have shown that it can be diagnosed in patients as young as two and older as 80. Most people with PNHs are diagnosed for the first time in their 30 years, and most cases occur between the ages of 30 and 40 and 40 Symptoms, make the precise diagnosis a challenge. Some include:

Because many of these symptoms are common in other less serious conditions, PNH is often poorly diagnosed or initially confused with other problems. For example, someone with dark urine might think that they are dehydrated, or someone who is fatigued could assume that they only need more rest. However, in the case of PNH, these symptoms persist and worsen over time, which caused greater investigation.
The diagnosis often begins with a detailed clinical evaluation to identify common symptoms. Initial laboratory tests typically reveal anemia and signs of destruction of red blood cells (high levels of dehydrogenase lactate, low haptoglobin and higher reticulocyte counts). The key diagnostic tool is flow cytometry, which detects the absence of certain proteins (CD55 and CD59) in the red blood cells linked to Pigas gene mutation. Additional tests, such as coagulation studies and renal function tests, evaluate complications, while bone marrow biopsy and genetic tests can be performed in complex cases to differentiate PNH from conditions.

Importance of consciousness

Although it is rare, PNH has a deep impact on the quality of life of a patient. It leads to severe anemia mainly due to the destruction of red blood cells and results in a significant loss of hemoglobin. In addition, in some patients with PNH, bone marrow, which is responsible for producing new blood cells, is also affected, leading to the insufficiency of bone marrow or aplastic anemia. This chronic reduction already severe in red blood cells causes typical symptoms such as fatigue, weakness and lack of breath. Therefore, raising awareness about the condition is crucial, since it can help with early diagnosis. Approximately 40 to 50 years ago, the 10 -year survival rate for PNH was only about 50%. However, in the last 15 years, advances in treatment, such as the development of Eculizumab, have improved the 10 -year survival rate to more than 75%.
PNH can lead to potentially mortal complications, but there are available treatments that can help control symptoms, reduce the frequency of hemolytic episodes and reduce the risk of blood clots. One of the main treatments implies the use of medicines called complement inhibitors, which can help protect the red blood cells from destruction. In some cases, a bone marrow transplant may be necessary, especially if PNH is accompanied by other bone marrow disorders. Regular monitoring and support attention are also essential, since they can help control symptoms and prevent complications. Consciousness can lead to early detection and a better quality of life.
Therefore, do not ignore the seemingly normal signs, such as extreme fatigue or change in urine color, and does not take to consult the doctor.
Dr. Rayaz Ahmed, Hematologists, Max Hospital Saket Delhi