eMedicine Specialties > Pediatrics: General Medicine > Hematology
Acanthocytosis: Treatment & Medication
Updated: Aug 7, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
Medical Care
Treatment of disorders with acanthocytosis depends on the underlying condition.
- Medical care of abetalipoproteinemia includes dietary restriction of long-chain fatty acids, with judicious supplementation with medium-chain triglycerides. Supplementation with lipid-soluble vitamins A, D, E, and K is necessary in large doses.
- Vitamin E supplementation may stabilize neuromuscular and retinal abnormalities. Iron and folate supplementation may be necessary.
- Occupational and physical therapy is recommended to treat progressive neurologic disease.
- Typical care for severe liver disease includes careful fluid management, correction of metabolic disturbances, treatment of hypoglycemia, and careful nutritional management.
- Encephalopathy requires decreasing ammonia production.
- GI bleeding may require surgical intervention. Other therapies appropriate for the underlying disease may be necessary.
- Splenectomy moderates hemolysis; however, it should be reserved for patients in whom the risks of abdominal surgery are considered acceptable.
- Surgical risks are high in the setting of severe hepatocellular disease, portal hypertension, and coagulopathy.
- In spur cell hemolytic anemia of severe liver disease, various lipid-lowering agents have been tried without success.
- Hormone replacement is administered as indicated with endocrine disorders.
Consultations
- Gastroenterologist
- Nutritionist
- Ophthalmologist
- Neurologist
- Hematologist
- Orthopedist
- Cardiologist
- Genetic counselor
Diet
Restriction of long-chain fatty acids and judicious supplementation with medium-chain triglycerides is necessary in abetalipoproteinemia.
Medication
Treatment of abetalipoproteinemia includes dietary restriction of triglycerides, supplementation with medium-chain triglycerides, and supplementation of lipid-soluble vitamins A, D, E, and K in high doses. Occasionally, patients have associated iron or folic acid deficiencies, necessitating supplementation with oral iron and folic acid.
Vitamins and cofactors
These agents are organic substances required by the body in small amounts for various metabolic processes. They are classified as fat-soluble or water-soluble. Vitamins A, D, E, and K are fat-soluble; biotin, folic acid, niacin, pantothenic acid, the B vitamins (ie, B-1, B-2, B-6, B-12), and vitamin C are generally water-soluble. These agents are clinically used for the prevention and treatment of specific vitamin-deficiency states.
Vitamin A (Aquasol A, Palmitate-A 5000)
Required for bone development, growth, night vision, and gonadal function and is a biochemical cofactor.
Adult
5,000-25,000 U/d PO of water-miscible product; based on monitoring of levels
Pediatric
Administer as in adults
PO contraceptives increase plasma vitamin A levels; cholestyramine may decrease PO absorption; large doses increase the anticoagulant effect of warfarin
Documented hypersensitivity; hypervitaminosis A
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
Precautions
Pregnancy category X if dose exceeds RDA; monitor for toxicity if dose >25,000 U/d
Ergocalciferol (Drisdol)
Vitamin D stimulates the absorption of calcium and phosphate from the intestines and decreases bone resorption.
Adult
800-5000 IU/d PO; based on monitoring of levels
Pediatric
Administer as in adults
Colestipol, mineral oil, and cholestyramine may decrease absorption from the small intestine; thiazide diuretics may increase effects of vitamin D
Documented hypersensitivity; hypercalcemia; vitamin D toxicity
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
Precautions
Pregnancy risk factor C if exceeds RDA; hypercalcemia, hypercalciuria, and pseudotumor cerebri; caution in impaired renal function, renal stones, heart disease, or arteriosclerosis
Vitamin E (Nutr-E-Sol)
Vitamin E protects polyunsaturated fatty acids in membranes from free radical injury and stabilizes RBC membranes. Nutr-E-Sol is a specially formulated vitamin E complexed with polyethylene glycol 1000 succinate to allow direct absorption without biliary emulsification. This is the formulation of choice for vitamin E–replacement therapy in patients with cholestasis. The formulation contains 400 IU vitamin E/15 mL.
Adult
400-1200 IU (15-45 mL) PO qd; based on monitoring of levels
Pediatric
Administer as in adults
Antagonizes vitamin K and results in abnormal PT; delays absorption of iron
Documented hypersensitivity
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
Pregnancy risk factor C with large doses; in neonates, possible increased intraventricular hemorrhage, necrotizing enterocolitis, sepsis, and hepatic toxicity if administered in large IV doses
Phytonadione (Mephyton)
Vitamin K-1 is necessary for the production of clotting factors II, VII, IX, and X by serving as a cofactor during carboxylation of glutamic acid residues.
Adult
10 mg PO qd/bid
Pediatric
2.5-10 mg PO qd
Resistance to prothrombin-depressing anticoagulants (eg, warfarin) may result from larger doses
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Large doses may cause severe hemolytic anemia and hyperbilirubinemia in neonates
Folic acid
Important cofactor for enzymes used in production of RBCs.
Adult
1 mg PO qd
Pediatric
Infants: 15 mcg/kg/d PO or 50 mcg/d
<12 years: 0.1-0.4 mg/d PO
>12 years: Administer as in adults
Increase in seizure frequency and a decrease in subtherapeutic levels of phenytoin reported when used concurrently
Documented hypersensitivity
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
Precautions
Benzyl alcohol present in some products as preservative has been associated with fatal gasping syndrome in premature infants; resistance to treatment may occur in patients with alcoholism and deficiencies of other vitamins
Trace elements
These agents are inorganic substances found in small amounts in the tissues and are required for various metabolic processes.
Polysaccharide-iron complex (Niferex, Nu-Iron)
A nutritionally essential inorganic substance. Polysaccharide-iron complex is a product that contains ferric iron. 150 mg equals 150 mg of elemental iron. Also available as elixir containing 100 mg elemental iron per 5 mL.
Adult
150 mg PO qd; may adjust dose according to hemoglobin or weight
Pediatric
4-6 mg/kg/dose PO qd
Absorption is enhanced by ascorbic acid; food and antacids impair absorption; when coadministered, may decrease levodopa, fluoroquinolones (eg, ciprofloxacin), mycophenolate, penicillamine, cephalosporins, tetracyline, or thyroid hormones absorption
Documented hypersensitivity; hemochromatosis; hemosiderosis
Pregnancy
A - Fetal risk not revealed in controlled studies in humans
Precautions
May cause GI upset; iron toxicity is observed with ingestion of large amount and can be fatal, especially in children
More on Acanthocytosis |
| Overview: Acanthocytosis |
| Differential Diagnoses & Workup: Acanthocytosis |
 Treatment & Medication: Acanthocytosis |
| Follow-up: Acanthocytosis |
| Multimedia: Acanthocytosis |
| References |
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Further Reading
Keywords
acanthocytosis, acanthocytes, abetalipoproteinemia, Bassen-Kornzweig syndrome, atypical retinitis pigmentosa, progressive ataxic neurologic disorder, neuroacanthocytosis, McLeod syndrome, McLeod blood group, Lutheran blood group, apolipoprotein B deficiency, beta-lipoprotein deficiency, beta lipoprotein deficiency, familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency, celiac disease, spur cell hemolytic anemia, spur cell anemia of severe liver disease, severe active hepatitis, cholestasis, neonatal hepatitis, metastatic liver disease
hemochromatosis, Wilson disease, alcoholic cirrhosis, infantile pyknocytosis, Zieve syndrome, lipid metabolism, hypothyroidism, myxedema, chronic granulomatous disease, CGD, hypomagnesemia, hypophosphatemia, uremia, hemolytic anemia, failure to thrive, hepatomegaly, splenomegaly, ascites, metastatic liver disease, hemochromatosis, neonatal hepatitis, cholestasis, Wilson disease, severe acute hepatitis, infantile pyknocytosis
