A Case Report and Management of Familial Amyloid Polyneuropathy Transmitted By Domino Liver Transplantation With Disease Onset at Less Than 3 Years (P7.086)
Bibliographic record
Abstract
Objective: To describe a rare etiology of familial amyloid polyneuropathy (FAP) and possible therapy. Background: FAP is a multisystem disorder caused by extracellular deposition of amyloid fibrils, commonly due to mutated transthyretin (TTR). Disease onset is usually in the 4th decade. Due to organ shortage, livers from FAP patients have commonly been used as “domino” donor grafts. Design/Methods: Case report Results: A 71 year old male underwent liver transplantation for NASH in Feb 2005. Less than 3 years later, he developed cardiac disease and mild renal impairment. Concurrently, he began to note symptoms of progressive polyneuropathy, with gradual loss of pain and temperature perception and increasing foot drop. Concomitantly, he developed symptoms of gastrointestinal dysautonomia. Electrophysiologic studies were in keeping with a severe length-dependent axonal sensorimotor polyneuropathy. Routine blood screening studies for neuropathy were negative. A sural nerve biopsy revealed TTR-positive endoneurial amyloid deposits, and similar deposition was found in gastric and duodenal biopsies. The patient tested negative for common TTR gene mutations. It was found that the liver donor was affected with FAP. The patient was empirically offered treatment with a transthyretin kinetic stabilizer, diflunisal 250 mg bid. There has been subjective and objective halting of neuropathy at 8 months post treatment initiation. Conclusion: We present very early onset of de novo systemic transthyretin amyloidosis in a recipient of an FAP liver. This new cause of amyloidosis was first documented in 2005, with subsequent reports showing disease onset in the range of 3-10 years. We have found that diflunisal may offer benefit for halting neuropathic progression in this rare etiology of FAP.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.004 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".