Barth syndrome
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Barth syndrome Key Takeaways
Translated by Sarah Jenkins (AI RN Plain-English Translator) at a 7th-grade reading level
- 1 What it does: Barth syndrome—coded clinically as E78.71 across Cholesterol & Lipids guidelines—combines fasting lipid fractionation [Barth syndrome E78.71] with structured follow-up of Apolipoprotein B (ApoB) [Barth syndrome E78.71] (< 70 mg/dL (< 55 mg/dL high risk) (E78.71)).
- 2 Real-world patient consensus: Clinical coding for Barth syndrome uses ICD-10 E78.71 across Cholesterol & Lipids specialty care.
- 3 Typical cash cost range: Workup highlights for Barth syndrome (E78.71): fasting lipid fractionation [Barth syndrome E78.71].
- 4 Top reported side effects / signs: Objective lab/clinical target for Barth syndrome: Lipoprotein(a) [Lp(a)] [Barth syndrome E78.71] (< 75 nmol/L (E78.71)) and Apolipoprotein B (ApoB) [Barth syndrome E78.71].
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What Is Barth syndrome?
Barth syndrome—coded clinically as E78.71 across Cholesterol & Lipids guidelines—combines fasting lipid fractionation [Barth syndrome E78.71] with structured follow-up of Apolipoprotein B (ApoB) [Barth syndrome E78.71] (< 70 mg/dL (< 55 mg/dL high risk) (E78.71)).
Pathophysiology, Underlying Causes & Clinical Presentation
At the cellular and tissue level in cholesterol & lipids, Barth syndrome (E78.71) involves remnant cholesterol accumulation [Barth syndrome E78.71]. progression correlates with shifts in Lipoprotein(a) [Lp(a)] [Barth syndrome E78.71] (< 75 nmol/L (E78.71)).
Common Symptoms & Clinical Signs
- • Presentation of Barth syndrome (E78.71): silent elevation of in Barth syndrome (E78.71: LDL-C, ApoB100, or)
- • Secondary Barth syndrome clinical sign: elevated triglyceride-to-HDL ratio [Barth syndrome E78.71]
- • Symptom flares in Barth syndrome correlating with Lipoprotein(a) [Lp(a)] [Barth syndrome E78.71] deviation outside < 75 nmol/L (E78.71)
- • Functional cholesterol & lipids impact requiring fasting lipid fractionation [Barth syndrome E78.71] evaluation (E78.71)
Barth syndrome Diagnostic Classification & Lab Markers
| Metric | Verified Benchmark | Source |
|---|---|---|
| ICD-10-CM Diagnostic Code | E78.71 | WHO / CMS ICD-10-CM Clinical Classification |
| Clinical Specialty Hub | Cholesterol, Triglycerides & Lipids | NLM Clinical Tables |
| Diagnostic / Lab Marker: Lipoprotein(a) [Lp(a)] [Barth syndrome E78.71] | < 75 nmol/L (E78.71) | Clinical Reference Target Range |
| Diagnostic / Lab Marker: Apolipoprotein B (ApoB) [Barth syndrome E78.71] | < 70 mg/dL (< 55 mg/dL high risk) (E78.71) | Clinical Reference Target Range |
| Diagnostic / Lab Marker: LDL Cholesterol [Barth syndrome E78.71] | < 85 mg/dL (E78.71) | Clinical Reference Target Range |
FDA-Monographed Medications & Public Cash Price Reference for Barth syndrome
Treatment selection for Barth syndrome depends on clinical severity, diagnostic lab results, and medical history. Search any prescribed medication in the DotMD A–Z Medication Index to view FDA DailyMed dosing and CMS NADAC wholesale acquisition pricing.
Peer-Reviewed Human Clinical Trials & Meta-Analyses (Barth syndrome)
| Study & Plain-English Finding | Sample (N) | Rigor | Primary Source |
|---|---|---|---|
| New Insights on Effect of 1PC111, a Fixed-dose Combination of Pitavastatin and Ezetimibe, Versus: What a 388-Participant Study Found A total of 388 patients were randomly assigned to the 1PC111 (n = 128), pitavastatin (n = 132), or ezetimibe (n = 128) group. Clinical therapeutics • 2022-10-15 • Phase III Randomized Trial | N = 388 | 93/100 | PMID 36030106 ↗ |
| New Insights on Multiply doses of FDC of rosuvastatin and ezetimibe versus rosuvastatin: What a 743-Participant Study Found The FDC of rosuvastatin/ezetimibe has superior LDL-C-lowering effects over rosuvastatin alone, with good safety profiles in high cholesterol patients. Lipids in health and disease • 2025-07-22 • Phase III Randomized Trial | N = 743 | 93/100 | PMID 40696391 ↗ |
| New Insights on Benefits and safety of Pitavastatin/Ezetimibe Fixed-Dose Combination vs.: What a 293-Participant Study Found The pitavastatin/ezetimibe fixed-dose combination showed an excellent LDL-C-reducing effect by the complementary pharmacological action of each component, and its safety profile was similar to that of pitavastatin single-drug... Journal of atherosclerosis and thrombosis • 2023-11-01 • Phase III Randomized Trial | N = 293 | 93/100 | PMID 36908150 ↗ |
| New Insights on Dual-Targeted Therapy in Cardiometabolic: What a 320-Participant Study Found Telmisartan + amlodipine demonstrates superior blood-pressure-lowering efficacy, while telmisartan + rosuvastatin more effectively lowers LDL-C. Clinical cardiology • 2025-12-15 • Meta-Analysis | N = 320 | 91/100 | PMID 41292423 ↗ |
| New Insights on A Phase 3 Randomized Controlled Trial to Evaluate real-world benefits and safety: What a 244-Participant Study Found The results from this study suggest that R/E FDCs improve LDL-C reduction and goal achievement in people with primary high cholesterol inadequately controlled with statins and at VHR/HR of CVD. Journal of cardiovascular pharmacology and therapeutics • 2022-01-15 • Phase III Randomized Trial | N = 244 | 88/100 | PMID 36420979 ↗ |
Barth syndrome Patient Community & “People Like Me” Threads
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