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Hereditary elliptocytosis

  • Definition
  • Alternative Names
    • Elliptocytosis - hereditary

  • Causes
    • Elliptocytosis affects about 1 in every 2,500 people of northern European heritage. It is more common in people of African and Mediterranean descent. You are more likely to develop this condition if someone in your family has had it.

  • Symptoms
    • Symptoms may include:

      • Fatigue
      • Shortness of breath
      • Yellow skin and eyes (jaundice). May continue for a long time in a newborn.
  • Exams and Tests
    • An exam by your health care provider may show an enlarged spleen.

      The following test results may help diagnose the condition:

      • Bilirubin level may be high.
      • Blood smear may show elliptical red blood cells.
      • Complete blood count (CBC) may show anemia or signs of red blood cell destruction.
      • Lactate dehydrogenase level may be high.
      • Ultrasound of the gallbladder may show gallstones.
  • Treatment
    • There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Surgery to remove the spleen may decrease the rate of red blood cell damage.

  • Outlook (Prognosis)
    • Most people with hereditary elliptocytosis have no problems. They often do not know they have the condition.

  • Possible Complications
    • Elliptocytosis is often harmless. In mild cases, fewer than 15% of red blood cells are elliptical-shaped. However, some people may have crises in which the red blood cells rupture. This is more like to happen when they have a viral infection. People with this disease can develop anemia, jaundice, and gallstones.

  • When to Contact a Medical Professional
    • Call provider if you have jaundice that does not go away or symptoms of anemia or gallstones.

  • Prevention
    • Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents.

  • References
    • Gallagher PG. Hemolytic anemias In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 161.

      Segel GB. Hereditary elliptocytosis. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 459.