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Autosomal recessive hypercholesterolemia and bilio-pancreatic diversion: A case report
Mahendra Narwaria1, Lakshman S Khiria1
1Asian Surgicenter, Department of Gastrointestinal Surgery and Bariatric Surgery, Ahmedabad, Gujrat 380009, India.
Insights
Autosomal recessive hypercholesterolemia (ARH) is a rare genetic disorder. This case study shows that bilio-pancreatic diversion (BPD) can effectively treat ARH, preventing severe cardiovascular events.
Area of Science:
- Genetics and Cardiovascular Medicine
- Metabolic Disorders
- Surgical Interventions
Background:
- Familial hypercholesterolemia (FH) is usually autosomal dominant, but a rare autosomal recessive form (ARH) exists.
- ARH presents severe symptoms like myocardial infarction and angina due to coronary artery disease (CAD).
- Early intervention in ARH is crucial to prevent CAD onset and progression.
Purpose of the Study:
- To report a case of autosomal recessive hypercholesterolemia (ARH).
- To evaluate the efficacy of bilio-pancreatic diversion (BPD) in treating ARH.
- To highlight treatment options for ARH before the development of CAD.
Main Methods:
- A case of ARH was treated.
- The treatment involved bilio-pancreatic diversion (BPD).
- Patient outcomes were monitored for effectiveness.
Main Results:
- The patient with ARH showed satisfying results after BPD treatment.
- BPD demonstrated a favourable outcome in managing ARH.
- The intervention aimed to alter the disease course before CAD onset.
Conclusions:
- Autosomal recessive hypercholesterolemia (ARH) requires specific management strategies.
- Bilio-pancreatic diversion (BPD) is a viable and effective treatment option for ARH.
- Timely treatment of ARH can significantly improve patient prognosis and prevent severe cardiovascular complications.
Summary:
Familial hypercholesterolemia (FH) is typically an autosomal dominant disorder but a rare variant, autosomal recessive FH (ARH) does also exist. The most serious symptom is sudden death, myocardial infarction, or angina due to atherosclerotic coronary artery disease. Therefore, treatment of ARH is aimed to alter the course of disease before the onset of CAD. Multiple treatment options available varying from life style modification to organ replacement with favourable outcome. We report a case of autosomal recessive hypercholesterolemia (ARH) who was treated with bilio-pancreatic diversion (BPD) with satisfying results.:
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