Peripheral blood smear for acanthocytes

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Microscopy for spiculated RBCs.

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Peripheral Blood Smear for Acanthocytes - Comprehensive Medical Test Guide

Why is it done?
- Test measures the presence and quantity of acanthocytes (abnormally shaped red blood cells with irregular membrane projections or spicules) on a blood smear examined under microscope
- Ordered when patients present with unexplained hemolytic anemia, neurological symptoms, or lipid abnormalities that may suggest underlying metabolic or genetic disorders
- Used to investigate suspected cases of abetalipoproteinemia, LCAT deficiency, McLeod syndrome, chorea-acanthocytosis, and liver disease with abnormal lipid metabolism
- Part of diagnostic evaluation for patients with abnormal hemoglobin patterns, immune hemolytic anemia, or unexplained splenomegaly
- Performed during routine peripheral blood smear examination when other hematologic findings suggest red blood cell morphology abnormalities
Normal Range
- Normal/Reference Range: Absence or rare presence of acanthocytes (0-2 acanthocytes per 100,000 red blood cells or essentially <1%)
- Units of Measurement: Percentage (%) or absolute count per microliter; reported qualitatively as absent, rare, few, moderate, or numerous
- Normal Interpretation: No significant acanthocytes detected on smear; indicates normal red blood cell morphology and membrane integrity, ruling out most hereditary and acquired hemolytic conditions associated with acanthocyte formation
- Abnormal Interpretation: Presence of ≥5-10% acanthocytes or greater indicates significant abnormality requiring further investigation; suggests underlying metabolic, genetic, or acquired hematologic disorder affecting red blood cell membrane lipid composition
Interpretation
- Absent or Rare Acanthocytes: Normal finding; excludes primary neuroacanthocytosis syndromes and abetalipoproteinemia; may observe very occasionally in normal individuals
- Few Acanthocytes (1-5%): May be seen in advanced liver disease, post-splenectomy states, or LCAT deficiency; warrants clinical correlation and consideration of additional testing
- Moderate to Numerous Acanthocytes (≥5-10% or higher): Highly suggestive of significant pathology including abetalipoproteinemia, chorea-acanthocytosis, McLeod syndrome, or severe hepatic dysfunction with altered lipid metabolism
- Factors Affecting Results: Specimen quality and preparation technique, slide thickness variation, staining adequacy, patient lipid levels, recent blood transfusions, hemolysis artifacts, storage conditions before analysis
- Clinical Significance of Patterns: The morphology of acanthocytes varies by underlying cause; spiculated appearance typical in abetalipoproteinemia, irregular processes in neuroacanthocytosis syndromes; combined with clinical presentation and additional testing helps establish specific diagnosis
- Association with Hemolysis: Presence of significant acanthocytes often correlates with hemolytic anemia markers including elevated indirect bilirubin, elevated LDH, reduced haptoglobin, and positive direct antiglobulin test in immune-mediated cases
Associated Organs
- Primary Organ Systems: Hematopoietic system (bone marrow and circulating blood), liver (lipid metabolism and bile acid synthesis), central and peripheral nervous system (affected in neuroacanthocytosis syndromes)
- Medical Conditions Associated with Abnormal Results:
  - Primary Neuroacanthocytosis Syndromes: Choreoacanthocytosis (including choreoacanthocytosis with VPS13A mutations), McLeod syndrome (XK gene mutation on X chromosome affecting red cell antigen expression), autosomal recessive chorea-acanthocytosis
  - Lipid Metabolism Disorders: Abetalipoproteinemia (complete absence of apolipoprotein B causing severe fat and fat-soluble vitamin malabsorption), LCAT deficiency (lecithin-cholesterol acyltransferase deficiency affecting lipid esterification)
  - Hepatic Disorders: Cirrhosis (hepatic cirrhosis from any etiology), hepatic steatosis, chronic cholestasis, alcoholic liver disease with altered lipid metabolism and red cell membrane changes
  - Hemolytic Anemias: Immune hemolytic anemia, microangiopathic hemolytic anemia, transfusion-related complications, hereditary spherocytosis with secondary changes
  - Post-Splenectomy Conditions: Accessory spleens, heterozygous hereditary spherocytosis, post-traumatic or surgical splenectomy with altered red cell morphology
- Potential Complications with Abnormal Results: Hemolytic anemia with resultant fatigue, dyspnea, tachycardia; neurologic complications in neuroacanthocytosis syndromes including progressive chorea, cognitive decline, psychiatric symptoms; hepatic decompensation; thrombotic events in some conditions; nutritional deficiencies from malabsorption (in abetalipoproteinemia)
- Impact on Multiple Organ Systems: Acanthocytes indicate systemic pathology affecting cardiovascular tolerance, neurologic function, nutritional status, and overall organ perfusion; requires comprehensive investigation and management
Follow-up Tests
- Hematologic Investigations: Complete blood count (CBC) with differential, reticulocyte count, bone marrow aspiration and biopsy if indicated, flow cytometry for red cell antigen typing (particularly Kell antigen in McLeod syndrome)
- Hemolysis Markers: Indirect bilirubin, lactate dehydrogenase (LDH), haptoglobin, direct antiglobulin test (Coombs), indirect antiglobulin test, osmotic fragility test
- Lipid and Metabolic Studies: Serum lipid panel (cholesterol, triglycerides, HDL, LDL, VLDL), apolipoprotein levels (ApoB, ApoA), lipoprotein electrophoresis, vitamin E and A levels (particularly in abetalipoproteinemia)
- Liver Function Assessment: Hepatic function panel (bilirubin, albumin, prothrombin time), transaminases (AST, ALT), alkaline phosphatase, GGT, hepatic ultrasound or MRI, liver biopsy if cirrhosis suspected
- Genetic and Molecular Testing: DNA sequencing for VPS13A mutations (choreoacanthocytosis), XK gene analysis (McLeod syndrome), MTTP gene testing (abetalipoproteinemia), LCAT gene sequencing if deficiency suspected, genetic counseling referral
- Neurologic Evaluation: Brain MRI to evaluate for structural changes, neuropsychiatric testing, electroencephalography (EEG), neurological consultation for movement disorder assessment in neuroacanthocytosis syndromes
- Nutritional Assessment: Fat-soluble vitamin levels (A, D, E, K), coagulation studies, prothrombin time if fat-soluble vitamin deficiency suspected, nutritional consultation particularly in abetalipoproteinemia
- Monitoring Frequency and Schedule: Initial comprehensive workup within 1-2 weeks of abnormal results; repeat peripheral blood smear every 3-6 months to assess disease progression or treatment response; ongoing monitoring depends on specific diagnosis and clinical course
- Complementary Tests: Immature blood cell analysis, eosinophil morphology study, assessment for schistocytes or other red cell abnormalities, immunophenotyping if leukopenia or thrombocytopenia present
Fasting Required?
- Fasting Requirement: NO - Fasting is not required for peripheral blood smear for acanthocytes
- Patient Preparation: Patient may eat and drink normally before blood draw; no special dietary restrictions needed; blood collection can occur any time of day
- Specimen Collection Instructions: Venipuncture into EDTA (purple-top) tube for blood smear preparation; proper tube filling to maintain correct blood-to-anticoagulant ratio is essential; specimen should be transported to laboratory promptly to avoid hemolysis and maintain cell morphology
- Medications - No Special Restrictions: Continue all regularly prescribed medications including anticoagulants, antiplatelet agents, and other routine medications; inform phlebotomist of anticoagulant use to ensure adequate pressure is applied after draw
- Specimen Stability: Blood smears should be made within 1 hour of collection to preserve cell morphology; specimens can be stored at room temperature for up to 24 hours if smear preparation is delayed; refrigerated specimens may show artifactual changes in red cell morphology
- Additional Recommendations: Inform laboratory if patient has had recent blood transfusions or recent chemotherapy, both of which may affect red cell morphology; hydration status and hematocrit levels do not require adjustment; patient should sit comfortably during phlebotomy to minimize hemolysis artifact

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