Protein deposited in familial amyloid neuropathy:
## **Core Concept**
Familial amyloid neuropathy, also known as transthyretin amyloidosis (ATTR), is a group of inherited disorders characterized by the accumulation of amyloid fibrils in various tissues, particularly in the peripheral nerves and sometimes in the heart and other organs. This condition is caused by mutations in the **transthyretin (TTR)** gene, leading to the production of abnormal transthyretin protein.
## **Why the Correct Answer is Right**
The correct answer, **Transthyretin**, is the protein deposited in familial amyloid neuropathy. Transthyretin is a transport protein produced primarily in the liver, and it carries thyroid hormones and vitamin A in the blood and cerebrospinal fluid. Mutations in the TTR gene result in the production of abnormal transthyretin, which misfolds and aggregates into amyloid fibrils. These fibrils accumulate in peripheral nerves, causing neuropathy, and sometimes in other organs.
## **Why Each Wrong Option is Incorrect**
- **Option A:** While abnormal proteins are involved in various amyloidoses, **Albumin** is not specifically associated with familial amyloid neuropathy.
- **Option B:** **Amyloid A** is associated with AA amyloidosis, which is secondary to chronic inflammation or infection, not with familial amyloid neuropathy.
- **Option D:** **Immunoglobulin** is related to AL amyloidosis (primary amyloidosis), which is associated with plasma cell dyscrasias, not with familial amyloid neuropathy.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that familial amyloid neuropathy often presents with a slowly progressive neuropathy, autonomic dysfunction, and sometimes cardiac involvement. The condition is inherited in an **autosomal dominant** pattern, meaning a single copy of the mutated gene is sufficient to cause the disease. Early diagnosis is crucial for management and potential treatment, including liver transplantation in selected cases to reduce the production of the abnormal transthyretin.
## **Correct Answer:** . **Transthyretin**