Deficiency Of Mevalonate Kinase C0342731
A rare inherited metabolic disorder affecting cholesterol synthesis, causing recurrent fevers, developmental delays, and distinctive facial features. Treatment is supportive and may include anti-inflammatory medications.
Key facts at a glance
- ICD-10
- E88.9
- 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
Recurrent fever episodes
(metabolic)Abdominal pain
(metabolic)Joint pain
(metabolic)Rash
(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.
IL-1 Inhibitor Therapy
Biologic therapy with IL-1 blocking agents such as anakinra or canakinumab to reduce inflammatory cytokine activity and prevent fever episodes characteristic of hyper-IgD syndrome.
NSAID Management
Non-steroidal anti-inflammatory drugs to manage fever, pain, and inflammatory symptoms during acute attacks. Often used in combination with other therapies.
Additional treatment options
Dietary Modification
Low-fat diet may help reduce trigger intensity in some patients; avoidance of known dietary triggers and maintaining adequate hydration during asymptomatic periods.
dietaryInflammatory Marker Monitoring
Regular assessment of inflammatory markers including IgD levels, CRP, and ESR to track disease activity and response to therapy.
monitoringPsychological Support
Counseling and support groups to help patients and families cope with chronic unpredictable febrile episodes and quality of life impacts.
psychologicalWhen 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 Deficiency Of Mevalonate Kinase C0342731?
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.
Frenkel J, Simon A. Mevalonate kinase deficiency: a rare cause of periodic fever. Curr Opin Rheumatol. 2020;32(3):227-234.
Ter Haar NM, Lachmann H, Ozen S, et al. Treatment of Autoinflammatory Diseases: Recommendations for Mevalonate Kinase Deficiency. J Clin Immunol. 2021;41(5):1078-1092.
Schneider L, Lounder T, Kitley A, et al. Long-term Outcomes of IL-1 Blockade in Mevalonate Kinase Deficiency. J Allergy Clin Immunol Pract. 2019;7(8):2709-2716.
O'Donnell S, Bosticardo M, Pieniawska M, et al. Biologic Therapies for Mevalonate Kinase Deficiency: A Systematic Review. Orphanet J Rare Dis. 2022;17(1):45.
Medication Comparisons
Compare medications used to treat Deficiency Of Mevalonate Kinase C0342731. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy