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Sitosterolemia
📖 About
- Sitosterolaemia is a very rare (<1 in a million) autosomal recessive disorder of lipid metabolism 🧬.
- It is caused by mutations in the ABCG5/ABCG8 genes encoding sterolin transporters ➝ defective excretion of plant sterols via bile and increased intestinal absorption 🌿.
- This leads to accumulation of plant sterols (phytosterols) in plasma and tissues ➝ premature cardiovascular disease 💔.
🩺 Clinical Features
- 💪 Tendon and tuberous xanthomas (similar to familial hypercholesterolaemia).
- 🧾 Arthralgia and haemolytic anaemia may occasionally occur.
- 🫀 Premature atherosclerosis ➝ early-onset coronary artery disease and strokes.
- 🧫 Splenomegaly and hepatomegaly may develop due to sterol deposition.
🔬 Investigations
- 📊 Plasma cholesterol may be normal or mildly elevated (not as high as in FH).
- 🌱 Markedly elevated plant sterols (beta-sitosterol, campesterol, stigmasterol) confirm diagnosis.
- 🧬 Genetic testing of ABCG5/ABCG8 confirms the disorder.
- 🧪 Exclude other dyslipidaemias (familial hypercholesterolaemia, polygenic hyperlipidaemia).
💊 Management
- 🍽️ Dietary modification: reduce foods rich in plant sterols (nuts, seeds, vegetable oils, margarine).
- 💊 Ezetimibe: inhibits intestinal absorption of sterols and cholesterol – well tolerated and effective compared with placebo.
- 🧪 Bile acid sequestrants (e.g. cholestyramine) may be adjunctive in some cases.
- ⚠️ Statins are usually ineffective because plant sterols, not cholesterol, drive the pathology.
- 🏥 Family screening and genetic counselling are important in autosomal recessive disease.
📚 References
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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