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Paroxysmal Nocturnal Hemoglobinuria (PNH)

A rare acquired clonal disease characterized by complement-mediated intravascular hemolysis, thrombosis and bone marrow failure due to GPI-anchored protein deficiency from PIG-A gene mutation.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Paroxysmal Nocturnal Hemoglobinuria (PNH)?

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic clonal disorder characterized by failure to synthesize the glycosylphosphatidylinositol (GPI) anchor due to acquired PIG-A gene mutation in bone marrow stem cells. This mutation leads to deficiency of GPI-dependent complement regulatory proteins such as CD55 and CD59 on the cell surface.

As a result, erythrocytes become unprotected against the complement system and are lysed by complement activated through both classical and alternative pathways. This intravascular hemolysis is continuous; it can intensify with pH drop during sleep and presents with dark-colored urine in the morning.

The most serious complication of PNH is venous thrombosis (especially in abdominal veins — Budd-Chiari, hepatic vein, mesenteric). There is also risk of pancytopenia with conversion to aplastic anemia or MDS. In treatment, eculizumab (anti-C5 monoclonal antibody) has provided revolutionary progress.

Symptoms

Dark (cola) colored urine in the morning
Fatigue and shortness of breath
Abdominal pain (especially in the morning)
Back pain, dyspnea
Dysphagia (esophageal spasm)
Erectile dysfunction in men
Thromboembolic events (Budd-Chiari, DVT)
Pancytopenia (bone marrow failure)

Risk Factors

History of aplastic anemia
Acquired PIG-A gene mutation
Idiopathic (most cases)
Environmental or viral triggers
Thromboembolic risk factors (young and unexplained thrombosis)
Risk of MDS conversion

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Dark-colored urine in the morning
  • New-onset thrombosis (especially abdominal veins)
  • Unexplained abdominal pain
  • Pancytopenia (low Hb, WBC, platelets)
  • Hemolytic anemia of unknown cause

Treatment Methods

01
Eculizumab or ravulizumab (C5 inhibitor, IV)
02
Pegcetacoplan (C3 inhibitor, oral daily)
03
Prophylactic anticoagulation (high-risk cases)
04
Iron and folic acid replacement
05
Erythropoietin (anemia management)
06
Allogeneic stem cell transplantation (curative in young patients)
07
Meningococcal and pneumococcal vaccination (before eculizumab)
08
Hemolysis, platelet, LDH monitoring

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.