遗传性出血性毛细血管扩张症

Our multispecialty team provides comprehensive, coordinated care for patients with hereditary hemorrhagic telangiectasia.

皇冠hga025大学洛杉矶分校健康 excellence in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that affects your blood vessels. 皇冠hga025大学洛杉矶分校健康 is an HHT Center of Excellence as designated by Cure HHT, HHT倡导和研究的领导者. 皇冠hga025大学洛杉矶分校健康中心, our HHT team includes the expertise of more than 10 subspecialty physicians that offer coordinated, HHT的综合护理. We provide the full array of screening tools, counseling services 和 treatment options.

我们课程的亮点包括:

协调护理: Before your first visit, we take a full medical history over the phone. If you are coming from out of town, we’ll try to set up any necessary testing in advance. 在你第一次来访时, you’ll meet with one of our program’s co-directors, who functions as your primary HHT doctor 和 point of contact. We then arrange all follow-up tests, procedures or referrals as needed.

多位专家治疗: 取决于你的HHT症状, your treatment team may include care from multiple subspecialized doctors. 我们的团队包括心脏病学, 皮肤病学耳鼻喉科(ENT); 胃肠病学遗传学、血液学、神经学, 神经外科和肺学. 它还包括专门的放射科医生, such as interventional 放射科医生, neuro放射科医生和 interventional neuro放射科医生.

公认的卓越: Our designation as a Center of Excellence with Cure HHT means we provide the full array of services to care for patients with HHT. Centers of Excellence proactively manage all their patient’s care 和 incorporate the expertise of multiple specialists.

全面诊断检查: We use established st和ards for diagnosing HHT, including the Curacao criteria 和 genetic testing. Our specialists may suspect or offer a likely diagnosis of HHT based on symptoms 和 family history. When needed, we can refer patients for genetic testing to confirm a diagnosis. Family members may also benefit from a genetic test to look for the specific gene mutation causing HHT.

什么是遗传性出血性毛细血管扩张?

Hereditary hemorrhagic telangiectasia is an inherited disorder that can affect blood vessel development in multiple body organs. 它也被称为奥斯勒-韦伯-伦杜综合症. This rare disorder occurs in about one in 5,000 people. HHT equally affects people of all genders, racial 和 ethnic groups.

Usually, tiny blood vessels called capillaries help transport blood between arteries 和 veins. People with HHT may form arteries 和 veins but no capillaries. Because of this, people with HHT have a higher risk of blood vessels rupturing or bleeding. People with HHT may experience complications such as:

脑动静脉畸形: Irregular connections between arteries 和 veins in the brain, which can disrupt blood flow

消化道出血: 消化道出血, 通常在胃或小肠中, which can cause chronically low red blood cells (anemia)

肝动静脉: Irregular connections between blood vessels in the liver, which may cause elevated liver enzymes but usually are asymptomatic in people with HHT

流鼻血: Recurrent blood loss from the nasal tissue, occurring in 95% of people with HHT

肺动静脉: Atypical connections between the pulmonary vein 和 pulmonary artery, resulting in blood bypassing the lungs before circulating to the rest of the body

我们提供HHT治疗

Treatment for hereditary hemorrhagic telangiectasia can vary, depending on what symptoms you experience 和 how severe they are. 在一般情况下, your treatment plan may focus on reducing bleeding or lowering your risk of complications from AVMs. 我们可以提供:

药物: Some patients benefit from medicines that block the growth of blood vessels or slow the disintegration of blood clots. Patients who develop anemia may also need iron supplementation through intravenous (IV) treatments.

鼻手术: We may offer procedures that help reduce the frequency 和 severity of nosebleeds. Our surgeons may offer ablation, using laser energy to block the blood vessels causing nosebleeds. We may also use skin grafts to replace tissue inside the nose.

脑、肝、肺治疗: 大脑中有动静脉畸形的患者, liver or lungs may benefit from treatments to remove or destroy the AVMs. 我们可以进行栓塞术, 它使用了一个长, hollow tube (catheter) to place a plug or coil inside the AVM so that blood no longer flows to it. 或者我们可以使用立体定向放射治疗, a procedure in which focused beams of radiation shrink or destroy the AVM. 在其他情况下, 我们可以通过手术切除动静脉畸形, 在极端情况下, 极少数情况下, 有些病人可能需要肝移植.