Amyloidosis
Overview
Amyloidosis is a group of diseases in which abnormal proteins, called amyloid proteins, accumulate in organs or organ systems such as the heart, kidneys, nervous system or gastrointestinal tract. There are different types of amyloidosis, dependent on the type of protein being deposited in tissues.
在美国，淀粉样变性最常见的形式被称为原发性淀粉样变性. In primary amyloid, 被沉积的蛋白质是抗体蛋白的一部分，称为轻链.
Primary amyloid is now a treatable disease. 治疗的主要药物是用于治疗相关骨髓癌的相同药物 multiple myeloma. Treatment options include chemotherapy, corticosteroid medicines, biologic agents, and in some instances, autologous stem cell transplantation. 治疗的目标是停止淀粉样蛋白在器官中的积累，延长寿命.
幸运的是，淀粉样变性很罕见，每年每100万人中约有8人患有淀粉样变性. 大多数患者年龄在40岁以上，60%是男性, although the condition can affect anyone. The cause is unknown.
Types of amyloidosis
There are three main types of amyloidosis:
- Primary amyloid This is a plasma cell disorder originating in the bone marrow. Abnormal cells produce antibody proteins which deposit as amyloid. 它是美国最常见的淀粉样变类型，每年影响2000人.
这种情况通常用化疗来治疗，不被认为是一种癌症. However, it may be associated with multiple myeloma, which is a type of bone cancer. 疾病的严重程度往往取决于器官受累的数量和程度. - Secondary amyloid This condition is caused by a chronic infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever (an intestinal disorder), osteomyelitis (infection of bone) or inflammatory disorders of the bowel. 这种疾病的淀粉样蛋白沉积是由一种叫做AA蛋白的蛋白质组成的. 对潜在的慢性感染或炎症性疾病的药物或手术治疗可以减缓或阻止这种淀粉样蛋白的进展.
- Familial (or hereditary) amyloid This rare form of amyloid is the only type that is inherited. It affects families of nearly every ethnic background. 这种类型的沉积物通常由肝脏中产生的转甲状腺素蛋白组成. The condition results from a mutation in this protein. Liver transplant is used to cure this form of amyloid.
Our approach to amyloidosis
加州大学旧金山分校致力于为淀粉样变性提供最先进的治疗方案. There are several types of amyloidosis, 最好的治疗方法取决于病人病情的类型和严重程度. 治疗方法从抗生素等药物到干细胞或肝脏移植.
我们也致力于通过研究发现更好的淀粉样变治疗方法. Interested patients may have the option to participate in clinical trials, which evaluate potential new therapies.
Signs & symptoms
Symptoms of amyloidosis depend on the organs it affects. The wide range of symptoms often makes amyloidosis difficult to diagnose. Some people may not experience any symptoms and others may have many symptoms. Frequently described symptoms include:
- Weakness
- Weight loss
- Shortness of breath
- Numbness or tingling in the hands or feet
- Diarrhea
- Severe fatigue
- An enlarged tongue
- Feeling full after eating smaller amounts of food than usual
- Dizziness upon standing
- Swelling of the ankles or legs
- Fainting spells
- Palpitations of the heart
Based on the organs involved and the resulting symptoms, amyloidosis can cause particular groups of symptoms, referred to by doctors as syndromes. These include:
- Congestive heart failure, or the inability of the heart to pump enough blood to meet the body's needs.
- Nephrotic syndrome, the excess loss of protein through the kidneys
- Autonomic neuropathy, 或者影响心率和排汗等非自愿身体功能的神经损伤.
- 周围神经病变，或影响周围神经系统(PNS)的神经损伤. PNS在大脑、脊髓和身体其他部位之间传递信息.
- Malabsorption, or problems absorbing nutrients from food.
Diagnosis
完整的病史和体格检查是诊断淀粉样变的必要十大赌博靠谱网络平台. Blood, urine and bone marrow tests also must be performed. Blood or urine tests can detect the amyloid proteins, 但是只有骨髓检查或其他小的组织样本——被称为活组织检查——才能确定淀粉样变的诊断.
A small tissue sample, or biopsy, will often be taken from the abdominal fat, rectum, and/or bone marrow to confirm the diagnosis of amyloidosis. 这些活组织检查是在门诊用局部麻醉(麻醉药物)进行的相对较小的手术。. Occasionally, samples need to be taken from damaged organs such as the liver, intestines, heart or kidney. The type of biopsy procedure required will vary from patient to patient.
Treatments
Treatment of amyloidosis is given to improve symptoms and extend life. Treatment can limit further production of amyloid proteins and, in some instances, promote the breakdown of amyloid proteins in affected organs. 所需的治疗类型取决于淀粉样变的类型和患者的症状.
With secondary amyloid, the main goal of therapy is to treat the underlying condition — for example, 类风湿关节炎时服用消炎药，感染时服用抗生素.
In hereditary amyloid, liver transplantation has been the most effective therapy. 新肝脏不会产生异常的淀粉样蛋白，因此疾病得到改善. 研究药物也在评估中，试图阻止这种淀粉样蛋白在器官中沉积.
For primary amyloid, treatments include the same agents used to treat multiple myeloma, such as chemotherapy, 皮质类固醇药物(来那度胺或沙利度胺)和/或硼替佐米(Velcade). 这些治疗方法减缓了器官的退化，有些还被证明可以延长寿命, but none provide a cure.
因为原发性淀粉样蛋白是一种难以治疗的疾病，生存率有限, researchers have begun to investigate the use of high-dose chemotherapy with autologous stem cell transplantation as a means of prolonging survival. The initial results with autologous stem cell transplantation are encouraging.
Autologous stem cell transplantation
原发性淀粉样蛋白患者接受广泛的检查，以评估器官功能和淀粉样蛋白病对身体的影响. 那些心脏，肝脏和肺功能正常的人被鼓励继续 autologous stem cell transplantation.
High-dose melphalan chemotherapy is administered over one day. 然后患者自身的干细胞(骨髓)在两到三天后重新注射. 另外三到四个星期在十大赌博平台排行榜等待骨髓恢复和生长.
The hope is that this therapy will delay progression of the disease, and in some cases, improve symptoms through removal of the abnormal proteins from the organs. However, this therapy is not a cure, and amyloidosis will return in everyone. That said, 我们有一些病人，他们已经成功地接受了干细胞移植治疗，当他们的疾病进展, have been able to receive another stem cell transplant.
一些新的研究药物正在评估治疗多发性骨髓瘤, another plasma cell disorder. 希望这些药物中的一些也能有效治疗淀粉样变性. For patients who are not candidates for stem cell transplantation, these agents may prove to be the best available treatment.
Patients with hereditary amyloid should be referred to the Liver Transplant Clinic for evaluation.
UCSF Health medical specialists have reviewed this information. 它仅用于教育目的，并不打算取代您的十大赌博平台排行榜或其他医疗保健提供者的建议. 我们鼓励您与您的供应商讨论您可能遇到的任何问题或疑虑.
