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急性间歇性卟啉病的姑息治疗方面——病例报告

Palliative Care Aspects of Acute Intermittent Porphyria - A Case Report.

作者信息

Abraham Neethu Susan, Mishra Seema, Vig Saurabh

机构信息

Department of Palliative Medicine, All India Institute of Medical Sciences, Dr B.R. Ambedkar, Institute Rotary Cancer Hospital, New Delhi, Delhi, India.

Department of Onco-Anaesthesia and Palliative Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India.

出版信息

Indian J Palliat Care. 2024 Jul-Sep;30(3):275-278. doi: 10.25259/IJPC_14_2024. Epub 2024 Aug 23.

Abstract

Acute intermitttent porphyria belongs to a rare group of diseases hallmarked by deficient biosynthesis of heme. It carries a significant symptom burden, both physical and emotional,and therefore palliative care has emerged as an essential tool in the armamentarium of porphyria management . It takes care of the patient as a whole and caters to all aspects that the disease process demands. There are many lacunae in the literature regarding the palliative management of porphyria. We are reporting a case of a 16-year-old female who presented with severe abdominal pain, lower backache and symmetrical bilateral lower limb pain to the palliative ward referred by the neurology department for supportive care. This case describes the palliative care aspects of porphyria management which was successfully provided in the palliative care unit right from referral till the last. A multidisciplinary palliative care team managed the patient, and the necessary interventions were provided to the patient and family. Palliative acre in AIP needs to be emphasized, and palliative care services need to be utilized in these cases. The unavailability of specific treatment measure, heme, in countries like India further emphasizes the need for long-term supportive care for the patient and family. The case shows the importance of palliative care throughout the disease course as it is a chronic disease with significant morbidity and carries a heavy symptom burden. This case provides the insight that rather than conventional management alone for such chronic diseases, palliative care should be incorportated. Early integration with palliative care helps in exploring all the domains of disease. This is one of the first cases reported highlighting palliative care in porphyria , bridging the gap in the literature.

摘要

急性间歇性卟啉病属于一类罕见疾病,其特征是血红素生物合成不足。它给患者带来了巨大的身心症状负担,因此姑息治疗已成为卟啉病管理手段中的一项重要工具。它关注患者的整体情况,并满足疾病过程所需要的各个方面。关于卟啉病的姑息治疗,文献中存在许多空白。我们报告一例16岁女性病例,该患者因严重腹痛、下背痛和双侧对称性下肢疼痛,由神经科转诊至姑息治疗病房接受支持治疗。本病例描述了卟啉病管理中的姑息治疗方面,从转诊到最后,姑息治疗病房成功地提供了相关治疗。一个多学科姑息治疗团队对该患者进行管理,并为患者及其家人提供了必要的干预措施。急性间歇性卟啉病的姑息治疗需要得到重视,在这些病例中需要利用姑息治疗服务。在印度等国家,像血红素这样的特定治疗措施难以获得,这进一步凸显了为患者及其家人提供长期支持治疗的必要性。该病例显示了姑息治疗在整个疾病过程中的重要性,因为它是一种具有显著发病率且症状负担沉重的慢性病。该病例提供了这样的见解,即对于此类慢性病,不应仅采用传统管理方法,还应纳入姑息治疗。早期与姑息治疗相结合有助于探索疾病的各个方面。这是首批报告的突出卟啉病姑息治疗的病例之一,填补了文献中的空白。

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