Which of the following is (are) Heredofamilial amyloidosis –
**Core Concept**
Heredofamilial amyloidosis, also known as hereditary amyloidosis, is a rare genetic disorder characterized by the deposition of amyloid fibrils in various tissues and organs. This condition is caused by mutations in genes that encode for transthyretin (TTR), a transport protein primarily produced in the liver.
**Why the Correct Answer is Right**
The correct answer refers to the specific type of heredofamilial amyloidosis caused by mutations in the TTR gene. These mutations lead to the production of abnormal TTR protein that misfolds and aggregates into amyloid fibrils, which are deposited in various organs, including the heart, nerves, and kidneys. The most common type of heredofamilial amyloidosis is caused by a mutation in the TTR gene, known as TTR V30M.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because it does not specify the genetic basis of heredofamilial amyloidosis. While it may be a related condition, it is not the correct answer.
* **Option B:** This option is incorrect because it is a type of amyloidosis caused by other genetic mutations, not TTR mutations.
* **Option C:** This option is incorrect because it is a type of amyloidosis caused by the deposition of immunoglobulin light chains, not TTR protein.
**Clinical Pearl / High-Yield Fact**
Hereditary amyloidosis due to TTR mutations is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disease. This is an important consideration for genetic counseling and family planning.
**Correct Answer:** C.