paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that affects the production and lifespan of red blood cells, white blood cells, and platelets. It occurs when part of the immune system attacks and damages these cells, leading to their premature death and impaired production.

Key Features:

• Affects red blood cells, white blood cells, and platelets
• Part of the immune system attacks and damages these cells
• Leads to premature death and impaired production of blood cells
• Can occur at any age, but is usually diagnosed in young adulthood

Symptoms:

• Hemolytic anemia (premature destruction of red blood cells)
• Hemoglobinuria (blood in the urine)
• Somatic symptoms such as fatigue and shortness of breath
• Thrombosis (blood clots)
• Renal insufficiency (kidney dysfunction)

First Description: The first description of paroxysmal hemoglobinuria was by German physician Paul Strübing in 1882.

Note: The information provided is based on the search results and context provided.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and complex blood disorder that can cause a range of signs and symptoms.

Common symptoms of PNH:

• Shortness of breath (dyspnea) [1]
• Kidney problems [1]
• Difficulty swallowing (dysphagia) [1]
• Esophageal spasms [1]
• Stomach pain [1]
• Back pain [1]

Other symptoms associated with PNH:

• Abdominal pain [2]
• Blood clots, which may form in some people [2]
• Dark urine, which is most prominent in the morning after concentration [3]
• Easy bruising or bleeding [2]
• Headache [4]
• Shortness of breath [5]

Additional symptoms that may occur:

• Muscle spasms [4]
• Trouble swallowing [4]
• Erectile dysfunction [4]
• Stomach pain [4]
• Irregular or fast heartbeat [4]
• Chest pain [4]
• Trouble breathing [4]

Symptoms related to anemia and kidney problems:

• Anemia (low number of red blood cells) [7]
• Acute Kidney Injury (AKI) [7]
• Fatigue, headaches, brain fog, shortness of breath, and other symptoms associated with anemia [8]

It's essential to note that not everyone with PNH will experience all of these symptoms, and the severity of the condition can vary from person to person. If you suspect you or someone else may have PNH, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8

Diagnostic Tests for Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that requires accurate diagnosis. Several diagnostic tests can help establish the condition.

• Flow Cytometry: This is considered the most accurate way to diagnose PNH [3]. Flow cytometry uses a sample of your blood and proteins called antibodies to measure certain proteins on the surface of red blood cells, white blood cells, and platelets.
• Modified Ham's Test: Also known as acidified serum lysis test, this test establishes the diagnosis of PNH by demonstrating a characteristic hemolysis (red blood cell destruction) in the presence of acidified serum [1].
• Sucrose Lysis Test: This blood test detects fragile red blood cells and can be used to diagnose PNH [8].
• Complete Blood Count (CBC): A CBC is often performed to check the numbers of red and white blood cells, which can indicate anemia or other abnormalities.
• Coombs Test: This test checks for antibodies against red blood cells, which can be present in PNH patients.
• Diagnostic Flow Cytometry: Offers a rapid means to provide a definite identification for cases of unexplained hemolytic anemias and bone marrow abnormalities [9].

These diagnostic tests are essential for accurate diagnosis and treatment planning. A healthcare professional will determine the best course of action based on individual patient needs.

References: [1] Jun 25, 2024 — The Ham test (acidified serum lysis) establishes the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH), demonstrating a characteristic ... [3] Apr 9, 2023 — Flow cytometry. This is the most accurate way to diagnose PNH. This test uses a sample of your blood. A lab uses proteins called antibodies ... [8] by P Manivannan · 2017 · Cited by 15 — Various tests like modified Ham's test, sucrose lysis test, gel card technique (GCT) and flow cytometry-based testing are available for making diagnosis [9–12]. [9] Apr 9, 2023 — Flow cytometry. This is the most accurate way to diagnose PNH. This test uses a sample of your blood. A lab uses proteins called antibodies ... [9] by CJ Parker · 2016 · Cited by 139 — Once suspected, the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) is straightforward when flow cytometric analysis of the ...

Treatment Options for Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and life-threatening blood disorder that requires prompt medical attention. The main goal of treatment is to manage the symptoms, prevent complications, and improve quality of life.

Medications Used to Treat PNH

Several medications have been approved for the treatment of PNH:

• Eculizumab (Soliris): This is the most widely used drug to treat PNH. It works by binding to proteins in the blood that can destroy red blood cells, reducing the risk of hemolysis and anemia [7].
• Ravulizumab (Ultomiris): This medication is also used to prevent hemolysis and anemia in patients with PNH [5].
• Pegcetacoplan (Empaveli): FDA-approved for the treatment of adults with PNH, this medication works by inhibiting the complement system, which can destroy red blood cells [9].
• Danicopan (Voydeya): This is a prescription medicine used along with ravulizumab or eculizumab to treat breakdown of red blood cells that takes place outside of blood vessels [6].

Current Standard of Care

The current standard of care for PNH includes the use of C5 inhibitors, such as eculizumab and ravulizumab. These medications have been shown to be effective in preventing hemolysis and anemia in patients with PNH [3].

Additional Treatment Options

Other treatment options are being explored, including complement inhibitors like iptacopan and crovalimab. These medications work by inhibiting the complement system, which can destroy red blood cells [5].

References:

• [1] Apr 9, 2023 — The main treatment for PNH is medicine to stop the breakdown of red blood cells, lower your chances of blood clots, and improve your quality of life.
• [2] Jun 25, 2024 — Danicopan is indicated for PNH in patients who experience clinically significant extravascular hemolysis, as an add-on to C5 inhibitor therapy ...
• [3] by M Bektas · 2020 · Cited by 29 — The current standard of care for paroxysmal nocturnal hemoglobinuria (PNH) are the C5 inhibitors eculizumab and ravulizumab.
• [4] Jun 29, 2023 — Currently, five PNH drugs have been approved, including Voydeya (danicopan, AstraZeneca), Fabhalta® (iptacopan, Novartis), Soliris (eculizumab, ...
• [5] Jun 25, 2024 — Medication Summary · Complement inhibitors (eg, pegcetacoplan, eculizumab, ravulizumab, crovalimab, iptacopan, danicopan), to stop hemolysis.
• [6] VOYDEYA is a prescription medicine used along with ravulizumab or eculizumab to treat breakdown of red blood cells that takes place outside of blood vessels ( ...
• [7] The most widely used drug to treat PNH is eculizumab (Soliris). The drug binds to proteins in the blood that can destroy red blood cells. It reduces the risk of ...
• [8] Common paroxysmal nocturnal hemoglobinuria medications are Solaris (eculizumab), Ultomiris (ravulizumab), and Empaveli (pegcetacoplan), which are used to ...
• [9] May 18, 2021 — FDA has approved Empaveli (pegcetacoplan) injection to treat adults with paroxysmal nocturnal hemoglobinuria (PNH), a rare, life-threatening blood disease.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that can be challenging to diagnose due to its similarity with other conditions. Here are some differential diagnoses that need to be considered:

• Hemolytic anemia: This condition involves the premature destruction of red blood cells, which can lead to similar symptoms as PNH, such as hemoglobinuria and jaundice [3].
• Paroxysmal cold hemoglobinuria (PCH): This is a rare autoimmune disorder that causes the breakdown of red blood cells in response to cold temperatures, leading to hemoglobinuria and other symptoms similar to PNH [3].
• Portal vein obstruction: This condition can cause abdominal pain, jaundice, and other symptoms that may be mistaken for PNH [1].
• Renal vein thrombosis: This is a blood clot in the renal veins that can cause hematuria, proteinuria, and other symptoms similar to PNH [1].

It's essential to consider these differential diagnoses when evaluating patients with suspected PNH. A thorough medical history, physical examination, and laboratory tests are necessary to rule out these conditions and confirm the diagnosis of PNH.

According to a study by F Gediz et al., it is suggested that PNH should be considered in patients presenting with a triad of symptoms: thrombocytopenia, iron deficiency anemia, and abdominal pain [2].

References:

[1] eMedicine - Differential Diagnoses · Hemolytic Anemia · Paroxysmal Cold Hemoglobinuria · Portal Vein Obstruction · Renal Vein Thrombosis Imaging.

[2] F Gediz et al. (2017) - In conclusion, we suggest considering PNH diagnosis in patients submitting with a triad of symptoms: thrombocytopenia, iron deficiency anemia, and abdominal pain.

[3] eMedicine - Differential Diagnoses · Hemolytic Anemia · Paroxysmal Cold Hemoglobinuria · Portal Vein Obstruction · Renal Vein Thrombosis Imaging.