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Paroxysmal nocturnal hemoglobinuria (PNH)

PNH

 

Paroxysmal nocturnal hemoglobinuria is a rare disease in which red blood cells break down earlier than normal.

Causes

 

People with this disease have blood cells that are missing a gene called PIG-A. This gene allows a substance called glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells.

Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from substances in the blood called complement. As a result, red blood cells break down too early. The red cells leak hemoglobin into the blood, which can pass into the urine. This can happen at any time, but is more likely to occur during the night or early morning.

The disease can affect people of any age. It may be associated with aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia.

Risk factors, except for prior aplastic anemia, are not known.

 

Symptoms

 

Symptoms may include:

  • Abdominal pain
  • Back pain
  • Blood clots, may form in some people
  • Dark urine, comes and goes
  • Easy bruising or bleeding
  • Headache
  • Shortness of breath

 

Exams and Tests

 

Red and white blood cell counts and platelet counts may be low.

Red or brown urine signals the breakdown of red blood cells and that hemoglobin is being released into the body's circulation and eventually into the urine.

Tests that may be done to diagnose this condition include:

  • Complete blood count (CBC)
  • Coombs' test
  • Flow cytometry to measure certain proteins
  • Ham's (acid hemolysin) test
  • Serum hemoglobin and haptoglobin
  • Sucrose hemolysis test
  • Urinalysis
  • Urine hemosiderin

 

Treatment

 

Steroids or other drugs that suppress the immune system may help slow the breakdown of red blood cells. Blood transfusions may be needed. Supplemental iron and folic acid are provided. Blood thinners may also be needed to prevent clots from forming.

Soliris (eculizumab) is a drug used to treat PNH. It blocks the breakdown of red blood cells.

Bone marrow transplantation can cure this disease.

All people with PNH should receive vaccinations against certain types of bacteria to prevent infection. Ask your health care provider which ones are right for you.

 

Outlook (Prognosis)

 

The outcome varies. Most people survive for more than 10 years after their diagnosis. Death can result from complications such as blood clot formation (thrombosis) or bleeding.

In rare cases, the abnormal cells may decrease over time.

 

Possible Complications

 

Complications may include:

  • Acute myelogenous leukemia
  • Aplastic anemia
  • Blood clots
  • Death
  • Hemolytic anemia
  • Iron deficiency anemia
  • Myelodysplasia

 

When to Contact a Medical Professional

 

Call your provider if you find blood in your urine, if symptoms worsen or do not improve with treatment, or if new symptoms develop.

 

Prevention

 

There is no known way to prevent this disorder.

 

 

References

Brodsky RA. Proxymal nocturnal hemoglobinuria. In: Hoffman R, Benz EJ Jr., Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Churchill Livingstone; 2013:chap 29.

Michel M. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 160.

Schafer AI. Thrombotic disorders. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 176.

 
  • Blood cells

    Blood cells - illustration

    Blood is comprised of red blood cells, platelets, and various white blood cells.

    Blood cells

    illustration

    • Blood cells

      Blood cells - illustration

      Blood is comprised of red blood cells, platelets, and various white blood cells.

      Blood cells

      illustration

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        Tests for Paroxysmal nocturnal hemoglobinuria (PNH)

         

         

        Review Date: 2/1/2016

        Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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