# Hereditary hypofibrinogenemia: A rare cause of chronic liver disease

**Authors:** Hannah Caringal, Nolan Maloney, Khyati Mehta, Akshat Jain, Kalyan Parashette

PMC · DOI: 10.1002/jpr3.70058 · JPGN Reports · 2025-06-27

## TL;DR

A rare genetic condition called hereditary hypofibrinogenemia caused chronic liver disease in a young child.

## Contribution

This case report highlights a rare manifestation of hereditary hypofibrinogenemia as chronic liver disease.

## Key findings

- A 2-year-old male with hereditary hypofibrinogenemia presented with elevated liver enzymes.
- The patient also exhibited skin and soft tissue bleeding, indicating fibrinogen deficiency.
- This case suggests a possible link between hypofibrinogenemia and chronic liver disease.

## Abstract

Hypofibrinogenemia is characterized by low levels of fibrinogen with patients commonly presenting asymptomatically. This report discusses a case of hereditary hypofibrinogenemia manifesting as chronic liver disease in a 2‐year‐old male who was evaluated for elevated liver enzymes and skin/soft tissue bleeding.

## Linked entities

- **Proteins:** FGB (fibrinogen beta chain)

## Full-text entities

- **Genes:** FGB (fibrinogen beta chain) [NCBI Gene 2244] {aka HEL-S-78p}
- **Diseases:** chronic liver disease (MESH:D008107), Hypofibrinogenemia (MESH:D000347), Hereditary hypofibrinogenemia (MESH:D009386), bleeding (MESH:D006470)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12611613/full.md

## References

5 references — full list in the complete paper: https://tomesphere.com/paper/PMC12611613/full.md

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Source: https://tomesphere.com/paper/PMC12611613