Hereditary gelsolin amyloidosis
Hereditary Gelsolin Amyloidosis Hereditary Gelsolin Amyloidosis (HGA), also known as Finnish-type amyloidosis, is a rare genetic disorder characterized by the accumulation of amyloid fibrils derived from the gelsolin protein. This condition primarily affects the eyes, skin, and peripheral nerves.
Pathophysiology[edit | edit source]
HGA is caused by mutations in the Gelsolin gene (GSN) located on chromosome 9. These mutations lead to the production of an abnormal gelsolin protein that is prone to misfolding and aggregation. The misfolded proteins form amyloid fibrils that deposit in various tissues, leading to the clinical manifestations of the disease.
Clinical Features[edit | edit source]
The symptoms of Hereditary Gelsolin Amyloidosis typically begin in adulthood and progress over time. The main clinical features include:
- Ocular Manifestations: Lattice corneal dystrophy, which can lead to visual impairment.
- Cutaneous Manifestations: Sagging skin, particularly around the eyes, due to amyloid deposits.
- Neurological Manifestations: Peripheral neuropathy, which may cause numbness, tingling, and muscle weakness.
Diagnosis[edit | edit source]
Diagnosis of HGA is based on clinical evaluation, family history, and genetic testing to identify mutations in the GSN gene. Biopsy of affected tissues may show amyloid deposits, and immunohistochemistry can confirm the presence of gelsolin-derived amyloid.
Treatment[edit | edit source]
Currently, there is no cure for Hereditary Gelsolin Amyloidosis. Treatment is symptomatic and supportive, focusing on managing the individual symptoms:
- Ocular: Regular ophthalmologic evaluations and interventions as needed.
- Cutaneous: Dermatological treatments to manage skin changes.
- Neurological: Pain management and physical therapy for neuropathy.
Prognosis[edit | edit source]
The progression of HGA varies among individuals. While the disease can significantly impact quality of life, it is not typically life-threatening. Regular monitoring and supportive care can help manage symptoms effectively.
Research and Future Directions[edit | edit source]
Research is ongoing to better understand the pathogenesis of HGA and to develop targeted therapies. Gene therapy and small molecules that stabilize the gelsolin protein are potential areas of investigation.
See Also[edit | edit source]
External Links[edit | edit source]
- Genetic and Rare Diseases Information Center
- [Amyloidosis Foundation](https://www.amyloidosis.org/)
NIH genetic and rare disease info[edit source]
Hereditary gelsolin amyloidosis is a rare disease.
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Contributors: Prab R. Tumpati, MD
