A204 FIBRINOGEN STORAGE DISEASE:A CASE SERIES AND LITERATURE REVIEW
Bibliographic record
Abstract
Fibrinogen Storage Disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen causing aggregation in the hepatic endoplasmic reticulum. Review of clinical, laboratory,histopathological findings of 2 children with FSD and a systematic review of the literature on FSD. Medical charts of two cases were reviewed. Pubmed, Medline and Cochrane databases were searched. Search term: fibrinogen storage disease, FSD, FGG. A 5 yr old male (Patient A) and 17 month old female (Patient B) were referred to The Hospital for Sick Children for consultation of asymptomatic elevation of liver enzymes. History and physical examination were non-contributory, key lab results provided in Table 1. Work-up for other causes of liver disease was unremarkable. Liver biopsy demonstrated hepatocytes with cytoplasmic eosinophilic inclusions on H&E stain, with mild portal fibrosis (Patient A) and lobular distortion, bridging fibrosis and nodule formation with some portal inflammation (Patient B) noted. Electron microscopy showed fingerprint-like structures in the dilated cisternae of the rough ER. Genetic testing for both patients revealed Aquadilla mutation in FGG gene. Patient B received ursodeoxycholic acid (UDCA), with modest improvement in liver enzymes. At last follow-up, both are asymptomatic with persistent elevation of liver transaminases and INR, and hypofibrinogenemia. Since the first published case of FSD in 1981, there have been no deaths or liver transplants reported in the subsequent total of 19 reported cases identified (9 males, mean age15.7 yrs, range 2-64yrs from year 1981–2016). Of 6 reported mutations in FGG gene, Aguadilla was most commonly seen (9/19 cases). Severity of disease varies, with cirrhosis present in 5/19 cases. Reported treatments include UDCA (n=3), vitamin E (n=1). Carbamazepine (n=4) provides a potential autophagy-enhancing therapy based on understanding of disease mechanism. Very limited outcome data is reported with survival reported for a mean of 6.3 years in 4 cases. FSD-1 is a rare liver disease in children and adults, but important because potentially treatable. We add 2 cases to the very limited published experience. We suggest that affected patients should be monitored for development of fibrosis. Treatment with carbamazepine can be considered for those with progressive disease. Table 1: Trends in labs and TE. CB – Conjugated Bili, UCB - Unconjugated Bilirubin, TE – transient elastography None
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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.013 | 0.011 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.003 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.002 |
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".