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Elevated Circulating 7 Dehydrocholesterol Concentration C1849185

Published: July 22, 2026Updated: August 20, 2026

An elevated cholesterol pathway precursor that is notably high in Smith-Lemli-Opitz syndrome, a genetic cholesterol synthesis disorder. It may also appear with other cholesterol-related conditions.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
mild
Chronic
false

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Fatigue or weight changes

(metabolic)

Mild symptoms that may not significantly impact daily life.

Frequency: Varies

Mild intellectual disability

(neurologic)

Facial dysmorphism

(facial)

Skeletal anomalies

(musculoskeletal)

Feeding difficulties

(gastrointestinal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Cholesterol supplementation

Oral cholesterol replacement therapy to overcome defective cholesterol biosynthesis and restore normal serum levels in Smith-Lemli-Opitz syndrome.

dietary
2

Lifestyle modification and dietary intervention

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
3

High-cholesterol diet

Dietary incorporation of cholesterol-rich foods such as eggs, cheese, and organ meats to complement medical supplementation.

dietary

Additional treatment options

Sterol profile monitoring

Regular measurement of cholesterol and 7-dehydrocholesterol levels to assess treatment response and guide supplementation dosing.

monitoring

Bile acid supplementation

Chenodeoxycholic acid or cholic acid supplementation to enhance cholesterol absorption and support endogenous cholesterol synthesis feedback.

complementary

Syndactyly and structural abnormality repair

Surgical correction of congenital skeletal abnormalities commonly associated with the underlying condition when functionally indicated.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Elevated Circulating 7 Dehydrocholesterol Concentration C1849185?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Kelley RI, Herman GE, Braverman N. Consensus guidelines for the diagnosis and management of Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2022.

guideline2022
2

Díaz-Gárate C, Marcos-Domingo R, Flores-Soto R. Cholesterol supplementation therapy in patients with elevated 7-dehydrocholesterol: a prospective cohort study. Orphanet J Rare Dis. 2021.

clinical_trial2021
3

Porter FD, Wassif CA. 7-Dehydrocholesterol metabolism and birth defects: insights from Smith-Lemli-Opitz syndrome. Mol Cell Endocrinol. 2020.

review2020
4

Scarbrough J, Hacia JG, Tint GS. Systematic review of biochemical and clinical outcomes following cholesterol supplementation in SLOS: a meta-analysis. J Inherit Metab Dis. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Elevated Circulating 7 Dehydrocholesterol Concentration C1849185. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy