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D58.1 – Hereditary Elliptocytosis Explained
D58.1 is the ICD-10 code for hereditary elliptocytosis, a congenital hemolytic anemia characterized by oval-shaped red blood cells.
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D58.1 is the ICD-10 code for hereditary elliptocytosis, a congenital hemolytic anemia characterized by oval-shaped red blood cells.
What is D58.1 – Hereditary Elliptocytosis?
The ICD-10 code D58.1 refers to hereditary elliptocytosis (also known as hereditary ovalocytosis), a rare, inherited disorder of the red blood cells (erythrocytes). In this condition, red blood cells are not the usual round shape but are instead oval to elliptical. This abnormal shape reduces the lifespan and function of red blood cells and can lead to hemolytic anemia – a type of anemia caused by the premature destruction of red blood cells.
Causes
Hereditary elliptocytosis is inherited in an autosomal dominant pattern, meaning that a mutation in just one copy of the relevant gene is sufficient to cause the disorder. The underlying genetic mutations affect proteins of the erythrocyte cytoskeleton, particularly:
- Spectrin (α- or β-spectrin)
- Protein 4.1
- Glycophorin C
These proteins are responsible for the structural stability and flexibility of the red blood cell membrane. Defects in their structure lead to the characteristic elliptical shape of the cells.
Symptoms
The symptoms of hereditary elliptocytosis are highly variable. Many individuals remain asymptomatic and the condition is only discovered incidentally during a routine blood test. In more severe cases, the following symptoms may occur:
- Fatigue and weakness due to anemia
- Pallor of the skin and mucous membranes
- Jaundice (icterus) due to elevated bilirubin levels
- Enlarged spleen (splenomegaly)
- Gallstones (cholelithiasis) as a complication of chronic hemolysis
- In severe cases: hemolytic crises, often triggered by infections
Diagnosis
Diagnosis is typically established through the following investigations:
- Complete blood count (CBC): Detection of anemia and signs of increased cell breakdown (e.g., elevated LDH, reduced haptoglobin)
- Peripheral blood smear: Microscopic identification of the typical elliptical red blood cell morphology – more than 25–75% of cells appear oval to elliptical
- Reticulocyte count: Elevated as a sign of compensatory increased red blood cell production
- Bilirubin levels: Elevated indirect bilirubin in the setting of hemolysis
- Molecular genetic testing: To confirm the diagnosis and identify the specific mutation
- Family history: Important given the hereditary nature of the condition
Treatment
Most patients require no specific treatment as the condition is mild. In more severe cases, the following measures may be considered:
- Folic acid supplementation: To support increased red blood cell production
- Blood transfusions: In cases of severe anemia or hemolytic crises
- Splenectomy (surgical removal of the spleen): In selected severe cases, as the spleen is the primary site of red blood cell destruction
- Cholecystectomy (removal of the gallbladder): When symptomatic gallstones develop as a consequence of chronic hemolysis
Regular hematological follow-up is recommended to detect complications early.
References
- German Institute for Medical Documentation and Information (DIMDI) – ICD-10-GM Version 2024, Code D58.1
- Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Semin Hematol. 2004;41(2):142-164. PubMed PMID: 15071793
- Lux SE. Anatomy of the red cell membrane skeleton: unanswered questions. Blood. 2016;127(2):187-199.
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