多发性内分泌腺瘤病 1 型 (MEN 1)

诊断

为诊断多发性内分泌腺瘤病 1 型（MEN 1），医生会进行体格检查，并核查您的病史和家族史。您可能需要接受血液检查和影像学检查，包括以下各项：

• 磁共振成像（MRI）。
• 计算机体层成像（CT）扫描。
• 正电子发射体层成像（PET）扫描。
• 核医学扫描。
• 胰腺内镜超声和其他扫描检查。

基因检测可以确定某人是否具有导致 MEN 1 的遗传变化。如果存在该遗传变化，那么其孩子具有遗传相同遗传变化并患 MEN 1 的风险。其父母及兄弟姐妹也有可能存在导致 MEN 1 的遗传变化。

如果在家庭成员中未发现相关的遗传变化，则无需进一步的筛查检测。但基因检测无法识别可导致 MEN 1 的所有遗传变化。如果基因检测不能确认 MEN 1，但很可能有人患有 MEN 1，那么这个人及其家庭成员仍需要密切随访，并且需要做适当的血液检查和诊断影像学检查。

治疗

在 MEN 1 中，肿瘤可能生长于甲状旁腺、胰腺和垂体腺。这些肿瘤可能导致多种医疗状况，但这些状况均可治疗。这些状况和治疗选项可能包括：

• 垂体瘤。可以通过手术或药物来治疗这些类型的肿瘤。
• 甲状旁腺功能亢进症。对于甲状旁腺激素分泌过多，手术切除大部分甲状旁腺是常规治疗方法。
• 神经内分泌肿瘤。它们通常位于胰腺或小肠（十二指肠）内。治疗方案取决于肿瘤的类型和分期。
• 低血糖综合征。当肿瘤分泌过多胰岛素（胰岛素瘤），导致葡萄糖水平显著降低，以至于可能危及生命时，就会发生此状况。医生通常建议手术治疗，可能切除部分胰腺。
• 卓艾综合征（ZES）。ZES 可能导致生成分泌过多胃酸的肿瘤（胃泌素瘤），引起溃疡和腹泻。医生可能会开药或建议手术治疗。
• 其他胰腺神经内分泌肿瘤。这些肿瘤有时会分泌其他可能引起多种健康问题的激素。这类肿瘤的治疗可能包括药物、手术或消融治疗。在消融治疗中，医生会破坏可能存在的异常组织。

• 转移性神经内分泌肿瘤。可以通过手术来治疗已经扩散到淋巴结或肝脏的疾病。手术选项包括肝脏手术、射频消融术、冷冻消融术或化疗栓塞术。

  射频消融术用针传递高频能量，加热周围组织，从而杀死附近的细胞。冷冻消融术则对肿瘤进行冷冻。化疗栓塞术需要将强效化疗药物直接注入肝脏。如果无法进行手术，医生可能采用其他形式的化疗或激素治疗。

• 肾上腺肿瘤。此类肿瘤大多可以观察到，但不进行治疗。但是，如果肿瘤分泌激素或变得很大，且被认为是癌性的，则医生会建议切除，通常采用微创手术。
• 类癌瘤。MEN 1 患者的类癌瘤可能发生在肺、胸腺和消化道中。当肿瘤没有扩散到其他区域时，外科医生会切除这些肿瘤。对于晚期病例，医生可以使用化疗、放疗或激素治疗。

准备您的预约

You may start by seeing your primary healthcare professional. Then you may be referred to a doctor called an endocrinologist who treats conditions related to hormones. You also may be referred to a genetic counselor.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do ahead of time. For example, you may be told not eat or drink anything except water for an amount of time before a test. This is called fasting. You also can make a list of:

• Your symptoms. Include any that don't seem related to the reason for your appointment.
• Key personal information. Include major stresses, recent life changes and family medical history.
• All medicines, vitamins or other supplements you take, including the doses.
• Questions to ask your healthcare professional.

Take a family member or friend along if you can. This person can help you remember the information you're given.

For MEN 1, some basic questions to ask your healthcare professional include:

• What's likely causing my symptoms?
• Other than the most likely cause, what are other possible causes for my symptoms?
• What tests do I need?
• Is my condition likely short-term or long-term?
• What's the best course of action?
• What are the alternatives to the main treatment you're suggesting?
• I have other health conditions. How can I best manage them together?
• Are there restrictions I need to follow?
• Should I see a specialist?
• Are there brochures or other printed material I can have? What websites do you recommend?

Feel free to ask any other questions that you think of.

What to expect from your doctor

Your healthcare professional is likely to ask you questions such as:

• Does anyone in your family have MEN 1?
• Have you or any family members been tested for changes in the MEN1 gene?
• If you have symptoms, when did they start?
• Are your symptoms ongoing or do they happen once in a while?
• How severe are your symptoms?
• What, if anything, seems to make your symptoms better?
• What, if anything, seems to make your symptoms worse?

What you can do in the meantime

If you have symptoms, try not to do anything that seems to make them worse.