Hereditary elliptocytosis is an inherited disorder in which the red blood cells are elliptical in shape.
Alternative Names
Elliptocytosis - hereditary
Causes, incidence, and risk factors
Elliptocytosis is inherited, usually as an autosomal dominant trait with an incidence of approximately 1 in 4000 people. In mild cases, fewer than 15% of the red cells appear in this form in the blood. Elliptocytosis is frequently benign , however, some affected people may experience hemolytic crises where the red blood cells rupture releasing their hemoglobin . Affected individuals can develop anemia , jaundice , and gallstones (cholelithiasis) .
Signs and tests
Examination by your health care provider may occasionally show an enlarged spleen ( splenomegaly ). Tests:
A CBC may show anemia and (or) hemolysis .
A peripheral smear of the blood may show elliptical red blood cells.
Bilirubin may be elevated. LDH may be elevated. Cholecystogram ( X-ray of gallbladder) may show gallstones.
Treatment
There is no treatment for the disorder unless there are hemolytic crises. Surgical removal of the spleen may decrease red blood cell rupture.
Expectations (prognosis)
The majority of individuals with hereditary elliptocytosis have no problems, and they are unaware of their condition.
Calling your health care provider
Call for an appointment with your health care provider if prolonged jaundice occurs, or if you develop symptoms of anemia or gallstones.
Prevention
Genetic counseling may be appropriate for prospective parents. However, the majority of individuals with hereditary elliptocytosis are unaware of any problems.