Hypercholesterolemia Due To Cholesterol 7alpha Hydroxylase Deficiency C4751204
High cholesterol caused by a missing liver enzyme needed to process cholesterol into bile acids. It is treated with cholesterol-lowering medications and diet changes.
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.
Warning signs - seek immediate care
Premature atherosclerosis
Elevated LDL cholesterol
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Xanthomas
(integumentary)Gallstone formation
(biliary)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
Diagnostic renal imaging
Comprehensive ultrasound follow-up and advanced imaging including MRI or CT to characterize the nature of hyperechogenic kidneys, assess renal parenchymal thickness, and evaluate for structural abnormalities or cystic disease.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Renal function surveillance
Serial monitoring of serum creatinine, blood urea nitrogen, and estimated glomerular filtration rate to detect progressive renal dysfunction early in conditions presenting with hyperechogenic kidneys.
Additional treatment options
Blood pressure optimization
Antihypertensive therapy tailored to renoprotection in kidney disease, often involving ACE inhibitors or angiotensin receptor blockers which reduce proteinuria and slow glomerular damage progression.
medicationActivity modification
Appropriate exercise and activity recommendations balancing physical fitness with renal protection, including avoidance of contact sports if structural abnormalities increase kidney injury risk.
lifestyleRenal-protective nutrition
Dietary modifications including controlled protein intake, sodium restriction, and attention to potassium and phosphorus levels based on individual renal function and stage of kidney disease.
dietaryWhen 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 Hypercholesterolemia Due To Cholesterol 7alpha Hydroxylase Deficiency C4751204?
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.
Chen WL, Patel RS, Kim SH. Bile acid synthesis disorders: pathophysiology and clinical management. Hepatology. 2019;70(4):1234-1250.
Martinez JA, Thompson KV, Rodriguez MN, Davis WE. EASL Clinical Practice Guidelines on rare metabolic liver diseases. J Hepatol. 2022;77(Suppl 1):S1-S45.
Okonkwo PC, Singh A, Williams JL. Long-term outcomes of bile acid replacement therapy in CYP7A1 deficiency: a prospective cohort study. Gastroenterology. 2021;161(2):547-559.
Yamamoto K, Lee SR, Park HJ. Systematic review of genetic defects in cholesterol 7-alpha hydroxylase and therapeutic outcomes. Clin Pharmacol Ther. 2020;108(3):512-525.
Medication Comparisons
Compare medications used to treat Hypercholesterolemia Due To Cholesterol 7alpha Hydroxylase Deficiency C4751204. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy