Primary Hyperparathyroidism Superimposed on a Pre-existing Familial Hypocalciuric Hypercalcemia Diagnosis

##plugins.themes.bootstrap3.article.main##

  •   Alamin Alkundi

  •   Rabiu Momoh

Abstract


Familial hypocalciuric hypercalcemia is a rare clinical condition of persistently elevated serum calcium and reduced urinary calcium levels with an autosomal dominance inheritance pattern to the three out of four large types of this condition known. This rare condition goes largely undiagnosed as patients are largely asymptomatic and where symptoms are present, other causes of hypercalcemia are considered first. Hyperparathyroidism, super-imposing on FHH, is an even rarer occurrence. We present the case of an adult male with an initial provisional assessment of FHH, which was later confirmed with a genetic study. He went on to develop hyperparathyroidism (with evident enlarged parathyroid glands on Sestamibi parathyroid scan done, and an eventual histologic diagnosis of parathyroid adenoma after surgery). It remains to be established if this is an incidental occurrence or if there is a causal relationship between FHH and an onward development of parathyroid hypertrophy or adenoma(ta).



Keywords: Familial hypocalciuric hypercalcemia, genetics, hyperparathyroidism, parathyroid adenoma(ta)

References

A. Alkundi, R. Momoh, “Hyperparathyroidism complicating a pre-existing diagnosis of Familial Hypocalciuric Hypercalcemia (FHH),” https://www.endocrine-abstracts.org/ea/0073/ea0073ep33.

H. J. Timmers, M. Karperien, M. A. T. Hamdy, H. De Boer, A. R. Hermus, “Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium‐sensing receptor,” https://doi.org/10.1111/j.1365-2796.2006.01684.x.

P. H. Pissen, S. E. Christensen, L. Heickendorff, K. Brixen, L. Mosekeide, “Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population,” https://doi.org/10.1210/jc.2007-0322.

J. Y. Lee, D. M. Shoback, “Familial hypocalciuric hypercalcemia and related disorders,” Best Pract Res Clin Endocrinol Metab., 32(5):609-619, 2018. doi:10.1016/j.beem.2018.05.004.

M. Aashiq, A. J. Malallah, F. Khan, M. Alsada, “Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His,” https://www.hindawi.com/journals/cripe/2020/7312894/.

L. S. Eldeiry, D. T. Ruan, E. M. Brown, J. M. Gaglia, J. R. Garber, “Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications,” Endocr Pract, 18(3):412-417, 2012. doi:10.4158/EP11272.RA.

H. E. Forde, A. D. Hill, D. Smith, “Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia,” BMJ Case Rep, 2014bcr2014206473, 2014. doi:10.1136/bcr-2014-206473.

P. J. Robinson, R. J. Corall, “The importance of distinguishing familial hypocalciuric hypercalcaemia from asymptomatic primary hyperparathyroidism prior to neck exploration,” https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2273.1990.tb00447.x.

M. Blackburn. “Primary hyperparathyroidism and familial hyperparathyroid syndromes”.

https://www.racgp.org.au/afpbackissues/2007/200712/200712Blackburn.pdf.

E. Shane, D. Irani, “Hypercalcemia: Pathogenesis, Clinical Manifestations, Differential Diagnosis, and Management,” https://www.homepages.ucl.ac.uk/~ucgatma/Anat3048/PAPERS%20etc/ASBMR%20Primer%20Ed%206/Ch%2026-41%20-%20Disorders%20of%20Serum%20Minerals.pdf/

M. Papadakis, N. Meurer, T. Margariti, A. Meyer, N. Weyerbrock, C. Dotzenrath, “A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism”.

https://link.springer.com/content/pdf/10.14310/horm.2002.1711.pdf.

Downloads

Download data is not yet available.

##plugins.themes.bootstrap3.article.details##

How to Cite
Alkundi, A., & Momoh, R. (2021). Primary Hyperparathyroidism Superimposed on a Pre-existing Familial Hypocalciuric Hypercalcemia Diagnosis. European Journal of Medical and Health Sciences, 3(5), 8–11. https://doi.org/10.24018/ejmed.2021.3.5.1023