1 CASE PRESENTATION

A 63-year-old woman visited our outpatient clinic 2 months after being involuntarily admitted for a manic psychotic episode. She had been convinced that a bomb would hit her home and that she could talk to angels. When she was admitted, she was initially reluctant to take medication, but she quickly recovered with 10 mg of olanzapine per day and she was discharged after 3 weeks and 2 days. Her physical health is good except for osteoporosis and hypothyroid function. She does not use alcohol or drugs. She works as a legal assistant and will retire soon. She is divorced and has two daughters and two grandchildren.

Her psychiatric history revealed several (hypo)manic episodes (Figure 1). Her first manic episode likely resulted from sleep deprivation when she was 23 years old, and she recovered without needing medication after being admitted to a psychiatric ward. Her second episode of mania occurred at the age of 42 and was attributed to stress as a result of her divorce. This time around, she had to be admitted involuntarily. Then, she had three hypomanic episodes at ages 48, 51, and 58 of which she recovered without any intervention by mental healthcare professionals. She did not recall the duration of any of these last three episodes.

Despite her doubts about having bipolar disorder, she attended a psychoeducational course and attributed her episodes to psychosocial stressors, such as work-related problems and worries about her grandchild. There is no family history of psychiatric disorders, but she has a positive family history of Huntington's disease (HD), comprising seven genetically confirmed cases in one generation and symptomatic suspected cases in three successive generations. Her mother passed away at the age of 84, without an official HD diagnosis as shown in Figure 2. Our patient chose not to be genetically tested for HD as there is no cure yet. However, her two daughters decided to be tested. One of her daughters tested positive for HD, with a relatively low number of trinucleotide CAG repeats. While the exact number is not known, she was informed that a very late onset of HD was to be expected. The other daughter tested negative.

Since HD is an autosomal-dominant hereditary disease, it is highly probable that our patient has an HD gene expansion in a similar range as her daughter's. Although she had decided not to be tested for HD, our patient wondered if this could explain her vulnerability to developing psychiatric symptoms in response to psychosocial triggers and whether maintenance therapy with medication would be warranted.

中文翻译：

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对于有亨廷顿病家族史的女性，是否需要维持治疗来治疗复发性躁狂？

1 案例展示

一名 63 岁女性因躁狂精神病发作非自愿入院 2 个月后到我们门诊就诊。她确信炸弹会击中她的家，并且她可以与天使交谈。入院时，她最初不愿服药，但每天服用10毫克奥氮平后很快康复，3周零2天后出院。除骨质疏松和甲状腺功能减退外，她的身体健康状况良好。她不喝酒也不吸毒。她是一名法律助理，即将退休。她已离婚，有两个女儿和两个孙子。

她的精神病史显示出数次（轻）躁狂发作（图 1）。她的第一次躁狂发作很可能是由于23岁时睡眠不足造成的，在住进精神科病房后，她不需要药物就康复了。她的第二次躁狂症发生在 42 岁时，归因于离婚造成的压力。这一次，她不得不入院。然后，她在 48 岁、51 岁和 58 岁时出现了 3 次轻躁狂发作，其中她在没有心理保健专业人员干预的情况下康复了。她不记得最后三集的持续时间。

尽管她怀疑自己患有双相情感障碍，但她参加了心理教育课程，并将自己的发作归因于社会心理压力源，例如与工作相关的问题和对孙子的担忧。她没有精神疾病家族史，但有亨廷顿病（HD）阳性家族史，其中一代有七例基因确诊病例，连续三代有症状疑似病例。她的母亲于 84 岁去世，没有得到正式的 HD 诊断，如图 2 所示。我们的患者选择不接受 HD 基因检测，因为目前尚无治愈方法。然而，她的两个女儿决定接受测试。她的一个女儿的 HD 检测呈阳性，三核苷酸 CAG 重复次数相对较少。虽然确切的数字尚不清楚，但她被告知 HD 的发病时间会很晚。另一个女儿的检测结果呈阴性。

由于 HD 是一种常染色体显性遗传性疾病，因此我们的患者很可能与她女儿的 HD 基因扩展范围相似。尽管她决定不接受亨廷顿舞蹈症测试，但我们的患者想知道这是否可以解释她在心理社会触发因素下容易出现精神症状的脆弱性，以及是否需要药物维持治疗。