Massive tissue deposition of cholesterol leading to multi-organ failure in cholestatic hypercholesterolemia
Bibliographic record
Abstract
Cholestasis-induced severe hypercholesteremia can result in various complications, including the development of xanthomas and concern that marked hypercholesterolemia may accelerate atherosclerosis. However, deposition of lipids and cholesterol in organs beyond the skin and tendons, to the extent that they induce organ dysfunction or organ failure, has not previously been reported. Here we present two cases of marked hypercholesterolemia resulting from hepatobiliary dysfunction and cholestasis. In one of the two individuals (patient 1) who presented to us at a later stage of disease progression than patient 2, massive cholesterol tissue deposition in the retina, myocardium and kidney resulted in profound vision loss and ultimately fatal cardiorenal failure, whereas the second individual (patient 2) was noted to have retinal cholesterol deposition with minimal vision loss but extensive, pruritic and painful, tuberoeruptive xanthomas. Both patients were placed on weekly or biweekly plasmapheresis to prevent further disease progression, which successfully lowered cholesterol from 62.2 to 6.92 mmol/L in patient 1 and 18.4 to 5.88 mmol/L in patient 2, respectively. Unfortunately, the massive tissue lipid deposition in patient 1 proved to be beyond recuperation for plasma exchange therapy. In contrast, six months of biweekly plasmapheresis in patient 2 yielded marked resolution of xanthomas and halted progression of retinal cholesterol deposition and vision loss. These cases highlight the importance of thorough, systemic examination in patients with severe hypercholesterolemia secondary to cholestatic liver disease and attention to the potential devastating impact of massive cholesterol tissue-deposition, beyond atherosclerosis, which can be ameliorated if detected early by frequent plasma exchange.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".