Two Cases of Symptomatic Familial Hypocalciuric Hypercalcemia: Treatment Response to Calcimimetic Therapy

Author:

Shakesprere Jonathan1,Shafiq Ramsha2,Madahar Inderpreet3,Quinn Hugh B2,Thakkar Yashan1,Haider Adnan2ORCID

Affiliation:

1. Department of Internal Medicine, West Virginia University School of Medicine , Morgantown, WV 26505 , USA

2. Section of Endocrinology and Metabolism, Department of Internal Medicine, West Virginia University School of Medicine , Morgantown, WV 26505 , USA

3. Department of Endocrinology, Diabetes and Metabolism, Corewell Health , St. Joseph, MI 49085 , USA

Abstract

Abstract Familial hypocalciuric hypercalcemia (FHH) is marked by mild to moderate hypercalcemia, normal-elevated serum PTH levels, and relative hypocalciuria. Cinacalcet, a calcimimetic therapy, has been reported to reduce symptom burden and serum calcium levels in FHH. We report 2 adult males with chronic hypercalcemia, with initial concerns for primary hyperparathyroidism. Urine calcium screening and genetic testing confirmed FHH in both patients. Shortened QTc normalized while on cinacalcet in the first patient and reductions in serum calcium and PTH levels without symptomatic hypercalcemia were noted in the second patient. Calcimimetic therapy can potentially be offered to FHH patients, particularly those with hypercalcemia symptoms, serum calcium levels >1 mg/dL (0.25 mmol/L) above normal or at risk of cardiac arrhythmias. Cinacalcet treatment was overall well tolerated and significantly reduced serum calcium and PTH levels in 2 adult FHH patients over time. Calcimimetic therapy has shown promise in managing persistent hypercalcemia and potential adverse events in FHH patients. Potential barriers include indefinite treatment, cost, and possible adverse effects.

Publisher

The Endocrine Society

Reference12 articles.

1. Familial hypocalciuric hypercalcemia and related disorders;Lee;Best Pract Res Clin Endocrinol Metab,2018

2. Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism;Shinall;Endocr Pract,2013

3. Benign familial hypocalciuric hypercalcemia;Varghese;Endocr Pract,2011

4. Calcimimetic use in familial hypocalciuric hypercalcemia—a perspective in endocrinology;Marx;The Journal of Clinical Endocrinology & Metabolism,2017

5. Calcium-dependent regulation of ion channels;Shah;Calcium Bind Proteins,2006

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3