True statement regarding hereditary hemorrhagic telangiectasia:
**Core Concept**
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder characterized by the formation of abnormal blood vessels, leading to recurrent bleeding episodes. This condition is caused by mutations in genes that regulate angiogenesis, the process of new blood vessel formation.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiology of HHT. Patients with HHT have a predisposition to develop arteriovenous malformations (AVMs), which are abnormal connections between arteries and veins. These AVMs can lead to bleeding episodes, particularly in the skin, gastrointestinal tract, and lungs. The mutations in genes such as ENG and ACVRL1 disrupt the TGF-β signaling pathway, which is essential for regulating angiogenesis and preventing the formation of AVMs.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because HHT is not primarily associated with hypertension.
**Option B:** This option is incorrect because HHT is not a type of cancer, although patients may have an increased risk of certain types of cancer, such as hepatocellular carcinoma.
**Option C:** This option is incorrect because HHT is not caused by a deficiency in vitamin C.
**Clinical Pearl / High-Yield Fact**
Patients with HHT should be screened for AVMs in the lungs, liver, and brain, as well as for bleeding episodes in the skin and gastrointestinal tract. A family history of HHT and the presence of characteristic skin lesions, such as telangiectasias, can aid in the diagnosis.
**Correct Answer:** C.