Hereditary Pyropoikilocytosis Clinical Presentation

Updated: Aug 24, 2021
  • Author: Nellowe C Candelario, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

Hereditary pyropoikilocytosis (HPP) is considered the most severe type of hereditary elliptocytosis (HE) and manifests during infancy. HP is generally recognized when an infant or young child presents with a transfusion-dependent hemolytic anemia. The family history typically includes nonhemolytic hereditary elliptocytosis in a parent or sibling. The other parent likely has a previously undiagnosed spectrin deficiency. Most patients are of African origin, though cases have been reported in people of Arabian or Caucasian descent.

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Physical Examination

Physical examination is remarkable for signs of anemia. Prolonged neonatal jaundice has been reported. [2, 3, 4]  Signs of extramedullary hematopoiesis such as frontal bossing and splenomegaly could be appreciated. Affected children can have growth retardation. The chronic hemolytic disease can be complicated by gallbladder disease. 

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