Smith-Lemli-Opitz syndrome
Methodology & AI Transparency ⓘ
Smith-Lemli-Opitz syndrome Key Takeaways
Translated by Sarah Jenkins (AI RN Plain-English Translator) at a 7th-grade reading level
- 1 What it does: Under Cholesterol, Triglycerides & Lipids diagnostic criteria (E78.72), workup for Smith-Lemli-Opitz syndrome integrates coronary calcium risk in Smith-Lemli-Opitz syndrome (E78.72: scoring) with evidence-graded therapy tailored to Apolipoprotein B (ApoB) [Smith-Lemli-Opitz syndrome E78.72] response.
- 2 Real-world patient consensus: Federal ICD-10-CM code E78.72 categorizes Smith-Lemli-Opitz syndrome under Cholesterol, Triglycerides & Lipids.
- 3 Typical cash cost range: Differential triage of Smith-Lemli-Opitz syndrome (E78.72) utilizes coronary calcium risk in Smith-Lemli-Opitz syndrome (E78.72: scoring).
- 4 Top reported side effects / signs: Objective lab/clinical target for Smith-Lemli-Opitz syndrome: Apolipoprotein B (ApoB) [Smith-Lemli-Opitz syndrome E78.72] (< 70 mg/dL (< 55 mg/dL high risk) (E78.72)) and LDL Cholesterol [Smith-Lemli-Opitz syndrome E78.72].
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What Is Smith-Lemli-Opitz syndrome?
Under Cholesterol, Triglycerides & Lipids diagnostic criteria (E78.72), workup for Smith-Lemli-Opitz syndrome integrates coronary calcium risk in Smith-Lemli-Opitz syndrome (E78.72: scoring) with evidence-graded therapy tailored to Apolipoprotein B (ApoB) [Smith-Lemli-Opitz syndrome E78.72] response.
Pathophysiology, Underlying Causes & Clinical Presentation
Pathophysiologically, Smith-Lemli-Opitz syndrome (ICD-10 E78.72) is driven by excess VLDL particle in Smith-Lemli-Opitz syndrome (E78.72: assembly); specialists in Cholesterol, Triglycerides & Lipids monitor LDL Cholesterol [Smith-Lemli-Opitz syndrome E78.72] to gauge tissue recovery.
Common Symptoms & Clinical Signs
- • Presentation of Smith-Lemli-Opitz syndrome (E78.72): elevated triglyceride-to-HDL ratio [Smith-Lemli-Opitz syndrome E78.72]
- • Secondary Smith-Lemli-Opitz syndrome clinical sign: premature family history in Smith-Lemli-Opitz syndrome (E78.72: of coronary stenting,)
- • Symptom flares in Smith-Lemli-Opitz syndrome correlating with Apolipoprotein B (ApoB) [Smith-Lemli-Opitz syndrome E78.72] deviation outside < 70 mg/dL (< 55 mg/dL high risk) (E78.72)
- • Functional cholesterol & lipids impact requiring coronary calcium risk in Smith-Lemli-Opitz syndrome (E78.72: scoring) evaluation (E78.72)
Smith-Lemli-Opitz syndrome Diagnostic Classification & Lab Markers
| Metric | Verified Benchmark | Source |
|---|---|---|
| ICD-10-CM Diagnostic Code | E78.72 | WHO / CMS ICD-10-CM Clinical Classification |
| Clinical Specialty Hub | Cholesterol, Triglycerides & Lipids | NLM Clinical Tables |
| Diagnostic / Lab Marker: Apolipoprotein B (ApoB) [Smith-Lemli-Opitz syndrome E78.72] | < 70 mg/dL (< 55 mg/dL high risk) (E78.72) | Clinical Reference Target Range |
| Diagnostic / Lab Marker: LDL Cholesterol [Smith-Lemli-Opitz syndrome E78.72] | < 85 mg/dL (E78.72) | Clinical Reference Target Range |
| Diagnostic / Lab Marker: Fasting Triglycerides [Smith-Lemli-Opitz syndrome E78.72] | < 100 mg/dL (E78.72) | Clinical Reference Target Range |
FDA-Monographed Medications & Public Cash Price Reference for Smith-Lemli-Opitz syndrome
| Medication | Pharmacologic Class | Patient Worth-It | CMS NADAC / Unit | Typical Lowest Cash |
|---|---|---|---|---|
| Klor-Con (Potassium Chloride) Klor-Con • RxCUI 628953 | Osmotic Laxative | 89% | $0.1181 | $ 13.51 /mo |
| Vigafyde (Vigabatrin) Vigafyde • RxCUI RXN-B80789003 | Anti-epileptic Agent | 94% | $2.6200 | $ 197.14 /mo |
| Tosymra (Sumatriptan) Tosymra • RxCUI 401978 | Serotonin-1b and Serotonin-1d Receptor Agonist | 83% | $107.6342 | $ 640.00 /mo |
| Ciprofloxacin Hydrochloride and Dexamethasone Ciprofloxacin and Dexamethasone • RxCUI RXN-08321430-3203 | Corticosteroid | 82% | $6.9454 | $ 185.00 /mo |
| Vogelxo (Testosterone) Vogelxo • RxCUI 1596780 | Androgen | 80% | $2.1035 | $ 159.95 /mo |
| Zestril (Lisinopril) Zestril • RxCUI 314076-B24979238 | Angiotensin Converting Enzyme Inhibitor | 89% | $12.5244 | $ 640.00 /mo |
| Prevalite (Cholestyramine) Prevalite • RxCUI 1801279-B02450036 | Bile Acid Sequestrant | 82% | $0.1507 | $ 21.75 /mo |
| Jantoven (Warfarin Sodium) Jantoven • RxCUI 855296-B08321213 | Vitamin K Antagonist | 93% | $0.0813 | $ 14.36 /mo |
| Tenormin (Atenolol) Tenormin • RxCUI 197380-B24979245 | beta-Adrenergic Blocker | 81% | $12.7781 | $ 5.33 /mo |
| Pacerone (Amiodarone Hydrochloride) Pacerone • RxCUI 833528-B02451645 | Antiarrhythmic | 91% | $0.7188 | $ 7.89 /mo |
Peer-Reviewed Human Clinical Trials & Meta-Analyses (Smith-Lemli-Opitz syndrome)
| Study & Plain-English Finding | Sample (N) | Rigor | Primary Source |
|---|---|---|---|
| New Insights on Benefits and safety of fenofibric acid in combination with atorvastatin and: What a 543-Participant Study Found In patients with mixed high cholesterol, the combination of FA + Atorva/Eze significantly improved lipid and nonlipid parameters compared with Atorva/Eze and was generally well tolerated. American heart journal • 2010-10-15 • Phase III Randomized Trial | N = 543 | 93/100 | PMID 20934572 ↗ |
| Can This Approach Help? Inside the Latest Research on LDL-C Goal Attainment with Fixed-Dose Ezetimibe and Atorvastatin Versus High-Dose FDCs significantly improved LDL-C goal attainment compared to AS single-drug treatment in patients with very high ASCVD risk. Advances in therapy • 2026-03-15 • Phase III Randomized Trial | Multi-cohort | 88/100 | PMID 41553712 ↗ |
| Can This Approach Help? Inside the Latest Research on Benefits and safety of highly purified ethyl icosapentate soft capsules (MND-21) The superiority of MND-21 3600 mg/d over the placebo was observed, and MND-21 was safe and well tolerated. Journal of clinical lipidology • 2026-02-15 • Phase III Randomized Trial | Multi-cohort | 88/100 | PMID 41500861 ↗ |
| Can This Approach Help? Inside the Latest Research on Benefits and safety of inclisiran single-drug treatment in Chinese adults with Inclisiran single-drug treatment provided sustained and effective LDL-C reductions with a favorable safety profile in Chinese adults with low/moderate ASCVD risk. Journal of clinical lipidology • 2026-09-15 • Phase III Randomized Trial | Multi-cohort | 88/100 | PMID 42538188 ↗ |
| Can This Approach Help? Inside the Latest Research on Benefits and safety of rosuvastatin versus atorvastatin in high-risk Chinese Rosuvastatin 5 mg demonstrated non-inferiority and rosuvastatin 10 mg demonstrated superiority to atorvastatin 10 mg for lowering LDL-C in high-risk Chinese patients with high cholesterol, which was maintained through the... Current medical research and opinion • 2018-02-15 • Randomized Controlled Trial | Multi-cohort | 88/100 | PMID 28836458 ↗ |
Smith-Lemli-Opitz syndrome Patient Community & “People Like Me” Threads
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