Spur Cell Anemia Clinical Presentation

Updated: Jun 20, 2021
  • Author: Maham Bakhtyar, MBBS; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

The signs and symptoms of spur cell anemia are related to the anemia and the underlying disease.

In spur cell anemia, the hemoglobin level usually falls to less than 10 g/dL and occasionally levels as low as 5 g/dL. This fall may be associated with severe jaundice and rapid deterioration of liver function, coagulopathy, and hepatic encephalopathy.

In its chronic presentation, the anemia accompanying the alcoholic cirrhosis is mild, whereas in the acute presentation, the anemia develops over weeks to months as liver function deteriorates.The course of spur cell anemia correlates with liver function. 

Spur cell anemia has been reported in cases of pediatric cholestatic liver disease. [6] In most cases, the condition is transient and resolves with the improvement of underlying liver disease.

Hemosiderosis is reported in 20% of patients undergoing orthotopic liver transplantation for alcoholic liver disease. Spur cell hemolytic anemia is present in 75% of these patients. In the absence of the C282Y/HFE hemochromatosis gene mutation, spur cell hemolytic anemia is postulated to be responsible for the hemosiderosis related to repeated blood transfusions and increasing intestinal iron absorption.

Acanthocytosis in abetalipoproteinemia

The clinical presentation of acanthocytosis in cases of abetalipoproteinemia includes ataxia, retinitis pigmentosa that may lead to blindness, and fat malabsorption. Symptoms related to the deficiency of lipid-soluble vitamins (ie, vitamins A, K, E, and D) may be seen. Spur cells (50-90%) are present on the peripheral smear, and the hemolysis and anemia are mild.

Abetalipoproteinemia is an autosomal-recessive disease that manifests in the first months of life, with steatorrhea, abdominal distention, and growth retardation. Neurologic symptoms appear in patients aged 5-10 years and may progress to death in the second or third decade.

Chorea-acanthocytosis syndrome

The median age at onset of symptoms in chorea-acanthocytosis syndrome is 32 years. Median survival is 8-14 years. Limb chorea is the initial symptom in many cases, but because it may be mild, patients may be able to suppress it for long periods before the other symptoms are evident.

Orofacial tics, buccolingual dyskinesia, and tongue biting that cause major problems with eating and swallowing occur early in the disease course. Neurogenic muscle hypotonia, atrophy, and areflexia are common. Dysarthria develops during the course of the disease and occasionally may be the presenting feature.

Seizures have been described as a late manifestation in well‐established cases, but only rarely as the presenting symptom. [18]  Dementia is relatively common. Organic personality changes with impulsive, easily distracted behavior occur. Apathy and loss of insight are the most consistent symptoms. Other psychiatric symptoms that are encountered include depression, anxiety, paranoid delusions, and obsessive-compulsive features.

An increased number of acanthocytes in peripheral blood is characteristic but not pathognomonic and may appear only late in the course. [18] The percentage of acanthocytes in the peripheral blood varies from 20-50%. Patients do not have anemia.

McLeod phenotype

This condition is characterized by a mild, compensated hemolytic anemia and, occasionally, late-onset myopathy or chorea. [19]  The acanthocyte percentage varies between 25% and 85%, and serum creatine kinase (CK) is elevated. This disorder is also described in association with chronic granulomatous disease, retinitis pigmentosa, and Duchenne muscular dystrophy. The deletion of band Xp21 affects all or some of the genetic loci of those disorders because of their close proximity on the short arm of chromosome X.

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Physical Examination

In advanced liver disease, jaundice, hepatosplenomegaly, ascites, altered mental status, and bleeding diathesis may be present. In abetalipoproteinemia, ataxia and decreased visual acuity are the main findings.

Chorea-acanthocytosis syndrome is characterized by limb chorea, orofacial dyskinesia, muscle atonia, and atrophy.

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