Which type of Amyloidosis is caused by mutation of the transthyretin protein ?-
## **Core Concept**
Transthyretin (TTR) amyloidosis is a form of amyloidosis caused by mutations in the TTR gene, leading to the production of abnormal transthyretin protein. This protein is a transport protein produced in the liver and plays a crucial role in carrying thyroxine (T4) and vitamin A (retinol) in the blood and cerebrospinal fluid. Mutations in the TTR gene can cause the protein to misfold and aggregate as amyloid fibrils, which accumulate in various tissues and organs.
## **Why the Correct Answer is Right**
The correct answer, **. Hereditary Amyloidosis (Familial Amyloid Polyneuropathy, FAP)**, is caused by mutations in the transthyretin (TTR) gene. These mutations lead to the production of abnormal TTR protein, which aggregates to form amyloid fibrils. This type of amyloidosis is inherited in an autosomal dominant pattern and primarily affects the peripheral nerves, but it can also involve the heart, kidneys, and other organs.
## **Why Each Wrong Option is Incorrect**
- **Option A:** AL Amyloidosis (Primary Amyloidosis) is caused by the proliferation of plasma cells producing abnormal light chain immunoglobulins, not by a mutation in the transthyretin protein.
- **Option B:** AA Amyloidosis (Secondary Amyloidosis) results from chronic inflammation or infection leading to the production of serum amyloid A (SAA), which is not related to transthyretin mutations.
- **Option D:** Dialysis-related Amyloidosis is associated with long-term hemodialysis and involves the deposition of beta2-microglobulin amyloid fibrils, not transthyretin.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that Hereditary Amyloidosis (FAP) due to TTR mutations can be treated with liver transplantation, as the liver is the primary source of the abnormal protein. This treatment can halt the progression of the disease but does not reverse existing damage.
## **Correct Answer:** . Hereditary Amyloidosis