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Paroxysmal nocturnal hemoglobinuria (PNH)

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

Alternative Names

PNH

Causes

Persons 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

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:

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 patients with PNH should receive vaccinations against certain types of bacteria to prevent infection. Ask your doctor which ones are right for you.

Outlook (Prognosis)

The outcome varies. Most people surviveĀ for moreĀ 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

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

When to Contact a Medical Professional

Call your health care 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

US Food and Drug Administration. FDA Approves First-of-its-Kind Drug to Treat Rare Blood Disorder. Rockville, MD: National Press Office; March 16, 2007. Release P07-47.

Schwartz RS. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Ausiello D, eds. Goldman's Cecil Medicine. 23rd ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 164.

Updated: 2/24/2014

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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