Hoffman Andrew R, Mathison Tracy, Andrews Deno, Murray Kristine, Kelepouris Nicky, Fleseriu Maria
Department of Medicine, Stanford University School of Medicine, Palo Alto, CA 94304, USA.
Chicago, IL, USA.
J Endocr Soc. 2022 May 12;6(7):bvac077. doi: 10.1210/jendso/bvac077. eCollection 2022 Jul 1.
Adult growth hormone deficiency (AGHD) is a rare and serious condition associated with significant morbidity, including reduced quality of life, and is underdiagnosed and often missed in patients. Although the onset of AGHD can occur in either childhood or adulthood, adult-onset AGHD is more difficult to identify as it lacks the auxologic signs caused by GHD during childhood, includes symptoms that tend to be nonspecific, and lacks reliable, simple biomarker testing options. A panel of 9 patients with AGHD (3 with childhood onset; 6 with adult onset) was assembled to share their first-hand experiences, to help reveal important areas of need, increase health literacy, and to raise awareness about GHD among patients, caregivers, and healthcare practitioners. Interviews with patients yielded valuable insights from the patient perspective to supplement prior knowledge about AGHD symptomatology, biomarker testing, and treatment outcomes. Some patients described a burdensome and ineffective screening process that sometimes included many visits to different specialists, repeated rounds of biomarker testing, and, in some cases, excessive delays in AGHD diagnosis. All patients expressed frustration with insurance companies that often resist and/or delay treatment authorization and reimbursement and frequently require additional testing to verify the diagnosis, often leading to treatment gaps. These findings emphasize the necessity of more efficient identification and screening of patients with possible AGHD, better recognition by clinicians and insurance providers of the importance of sustained GH replacement therapy during adulthood, and better patient support for accessing and maintaining uninterrupted GH replacement therapy for patients with documented AGHD.
成人生长激素缺乏症(AGHD)是一种罕见且严重的疾病,与显著的发病率相关,包括生活质量下降,在患者中诊断不足且常常被漏诊。尽管AGHD可在儿童期或成年期发病,但成年期发病的AGHD更难识别,因为它缺乏儿童期生长激素缺乏症(GHD)所导致的体格发育指标,症状往往不具特异性,且缺乏可靠、简便的生物标志物检测方法。我们召集了9名AGHD患者组成小组(3名儿童期发病;6名成年期发病),分享他们的第一手经验,以帮助揭示重要的需求领域,提高健康素养,并提高患者、护理人员和医护人员对GHD的认识。对患者的访谈从患者角度提供了宝贵见解,以补充此前关于AGHD症状学、生物标志物检测和治疗结果的知识。一些患者描述了一个繁琐且无效的筛查过程,有时包括多次拜访不同专科医生、多轮生物标志物检测,在某些情况下,AGHD诊断会过度延迟。所有患者都对保险公司表示不满,保险公司常常抵制和/或延迟治疗授权及报销,并且经常要求额外检测以核实诊断,这往往导致治疗中断。这些发现强调了更高效地识别和筛查可能患有AGHD的患者的必要性,临床医生和保险提供者更好地认识成年期持续生长激素替代治疗的重要性,以及为确诊AGHD的患者更好地提供支持以获取并维持不间断的生长激素替代治疗。