内分泌学资源
Erdheim-Chester Disease (ECD) is an ultra-rare type of blood cancer that is difficult to diagnose and can manifest in a variety of complex ways. With ECD indicated as being underdiagnosed, it is imperative to raise awareness around the world, especially in the medical community. Hematologists, together with other clinicians, pathologists, and radiologists, play a vital role in identifying ECD. If doctors can accurately and quickly recognize ECD in a patient, there are viable FDA-approved and off-label treatments available to improve quality of life, slow progression of the life-threatening disease, and in some cases, even possibly reverse the damage done by the disorder. The key to a successful or more positive outcome is early diagnosis.
内分泌科医生需掌握的关键要点
- 这些病理变化均非ECD所特有—— clinical and radiographic features are key to diagnosis.
- 对于出现典型“毛发状肾”、后腹膜受累或骨骼受累的患者，应高度怀疑其患有ECD，尤其是伴有尿崩症时。.
- Diabetes insipidus and/or hypogonadism may precede the diagnosis of disease by several years
- 肾上腺包膜性病变/浸润通常不会导致原发性肾上腺功能不全；中枢性肾上腺功能不全虽罕见，但必须予以考虑
- 所有中枢和外周腺体均可能发生浸润，但激素紊乱的发生率高于可见的形态学异常
- Hormonal deficits can appear years after diagnosis, consequently, they must be re-evaluated on a yearly basis
- 男性面临不育风险，应获得有关精子保存的信息
- 早期儿童发展（ECD）中的代谢综合征尚未得到充分研究；应针对肥胖、血脂异常、高血压和血糖异常进行干预
- 务必进行从头顶到脚趾（全身）的PET-CT扫描，以检测膝关节周围的干骺端受累情况，并排查多器官受累。.
- ECD 可能与朗格汉斯细胞组织细胞增生症（LCH）或髓系肿瘤并存。.
- 分子研究在诊断和治疗中发挥着越来越重要的作用。.
联系一位在ECD领域经验丰富的内分泌科医生
法迪·汉娜-什穆尼，医学博士，美国内科医学委员会认证医师（DABIM），加拿大皇家内科医师学院院士（FRCPC）
电子邮箱： fady.hannah-shmouni@nih.gov
卡琳·库蒂约，医学博士
电子邮箱： carine.courtillot@aphp.fr
斯坎德·谢卡尔，医学博士
电话： 301-451-1866
联系 ECDGA 患者导航员
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