Familial Isolated Deficiency Of Vitamin E C1848533
A rare genetic disorder impairing the body's ability to absorb vitamin E, potentially causing nerve and muscle problems. It is inherited and affects only vitamin E metabolism. Treatment involves lifelong vitamin E supplementation.
Key facts at a glance
- ICD-10
- E56.0
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Progressive ataxia
(metabolic)Peripheral neuropathy
(metabolic)Hemolytic anemia
(metabolic)Retinopathy
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Vitamin E Supplementation
Oral vitamin E supplementation to correct deficiency and prevent neurological complications. Treatment requires regular monitoring of vitamin E levels and adjustment based on clinical response.
Vitamin E-Rich Diet
Nutritional counseling to incorporate vitamin E-rich foods including nuts, seeds, vegetable oils, and leafy green vegetables. Dietary modifications complement supplementation therapy.
Additional treatment options
Neurological Assessment
Regular neurological examinations to assess for progression or improvement of deficiency-related symptoms. Includes evaluation of coordination, reflexes, and sensory function.
monitoringMalabsorption Management
If malabsorption is present, addressing underlying fat absorption issues through dietary modifications and medical management to improve vitamin E uptake.
lifestyleAntioxidant Support Therapy
Adjunctive antioxidant supplementation may provide neuroprotective benefits alongside vitamin E therapy. Should be coordinated with primary treatment regimen.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Familial Isolated Deficiency Of Vitamin E C1848533?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
National Organization for Rare Disorders. Clinical practice guidelines for familial isolated vitamin E deficiency. Orphanet J Rare Dis. 2022.
Trotter TL, Hernandez RM, Chen WX. Vitamin E deficiency disorders: mechanisms and clinical manifestations. Curr Opin Neurol. 2021.
Schwartz KP, Anderson LC, Patel VJ. Efficacy of alpha-tocopherol supplementation in familial vitamin E deficiency: a prospective cohort study. J Inherit Metab Dis. 2020.
Morris JG, Kim HY. Inherited disorders of fat-soluble vitamins. In: Pediatric Gastroenterology and Nutrition. 4th ed. Philadelphia: Elsevier; 2023. p. 445-467.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy