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遗传性血色素沉着症:文献综述与病例报告

Hereditary hemochromatosis: a literature review and case report.

作者信息

Allen Mary K

机构信息

Mary K. Allen, MPT, MS: Clinical/Research Physical Therapist, Physiotherapy Associates, Hiawatha, Iowa, USA.

出版信息

Physiother Can. 2010 Summer;62(3):276-84. doi: 10.3138/physio.62.3.276. Epub 2010 Jul 23.

Abstract

PURPOSE

To improve understanding in the physical therapy (PT) community of hereditary hemochromatosis (HH), a common but little-known iron overload disorder, symptoms of which may mimic other orthopaedic conditions. Medical management typically involves phlebotomy to remove excess iron; however, there is little specific information in the literature on PT management of patients with HH after trauma.

CASE DESCRIPTION

The patient was a 65-year-old woman with multiple fall-related traumas, including right wrist, thumb, and patellar fractures and left thigh muscle strain with significant ecchymosis and effusion. Medical history included HH. Iron-related lab values had been analyzed 9 days prior to the fall and had demonstrated a steady increase over the previous 4 months since her last phlebotomy.

OUTCOMES

As the level of exercise and activity increased during the course of PT treatment, the patient developed shortness of breath and increased fatigue. The exercise level in therapy was reduced to accommodate the change in the patient's response. Blood values analyzed 7 weeks after the fall demonstrated a drop in haemoglobin and hematocrit values, while serum ferritin levels had risen.

IMPLICATIONS

Understanding early symptoms and management of a patient with manifestations of HH will better enable physical therapists to consider this disorder as a differential diagnosis or co-morbidity that affects treatment considerations.

摘要

目的

提高物理治疗(PT)界对遗传性血色素沉着症(HH)的认识,这是一种常见但鲜为人知的铁过载疾病,其症状可能与其他骨科疾病相似。医学管理通常包括放血以去除多余的铁;然而,文献中关于HH患者创伤后物理治疗管理的具体信息很少。

病例描述

患者为一名65岁女性,有多次与跌倒相关的创伤,包括右腕、拇指和髌骨骨折以及左大腿肌肉拉伤,伴有明显瘀斑和积液。病史包括HH。跌倒前9天分析了与铁相关的实验室值,显示自上次放血以来的前4个月中其持续上升。

结果

在PT治疗过程中,随着运动和活动水平的增加,患者出现呼吸急促和疲劳加剧。治疗中的运动水平降低以适应患者反应的变化。跌倒7周后分析的血液值显示血红蛋白和血细胞比容值下降,而血清铁蛋白水平上升。

启示

了解HH患者的早期症状和管理将使物理治疗师更好地将这种疾病视为影响治疗考虑的鉴别诊断或合并症。

相似文献

1
Hereditary hemochromatosis: a literature review and case report.遗传性血色素沉着症:文献综述与病例报告
Physiother Can. 2010 Summer;62(3):276-84. doi: 10.3138/physio.62.3.276. Epub 2010 Jul 23.
2
Management of hemochromatosis. Hemochromatosis Management Working Group.血色素沉着症的管理。血色素沉着症管理工作组。
Ann Intern Med. 1998 Dec 1;129(11):932-9. doi: 10.7326/0003-4819-129-11_part_2-199812011-00003.
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Hereditary hemochromatosis.遗传性血色素沉着症。
Am Fam Physician. 2013 Feb 1;87(3):183-90.

本文引用的文献

2
Current approach to hemochromatosis.血色素沉着症的当前治疗方法。
Blood Rev. 2008 Jul;22(4):195-210. doi: 10.1016/j.blre.2008.03.001. Epub 2008 Apr 21.
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Non-HFE haemochromatosis.非HFE型血色素沉着症
World J Gastroenterol. 2007 Sep 21;13(35):4690-8. doi: 10.3748/wjg.v13.i35.4690.
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Reduced exercise capacity in genetic haemochromatosis.
Eur J Cardiovasc Prev Rehabil. 2007 Jun;14(3):470-5. doi: 10.1097/HJR.0b013e3280ac151c.

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