Idiopathic Hypoparathyroidism: Still a Diagnostic Conundrum – A Tertiary Centre Experience

Abstract

Idiopathic hypoparathyroidism leads to hypocalcemia and hyperphosphatasemia and usually has a genetic aetiology. The variable but often subtle signs and symptoms usually lead to a misdiagnosis of hypoparathyroidism. Case records of 32 patients of idiopathic hypoparathyroidism admitted over a period of five years were analysed. There was a lag period of 5.94 years from the onset of symptoms to the diagnosis. Carpopedal spasm was the most common indication for admission to the hospital. Trivial symptoms such as fatigue (84%) and paresthesia (62.5%) were the most common reported symptoms. A sum of 46.5% of the patients were on antiepileptic drugs before the correct diagnosis of hypoparathyroidism was made. This observation emphasized that Calcium profile should be obtained in patients with history of paresthesia and seizure to avoid the long delay in diagnosis of hypoparathyroidism.

Key words

paraesthesia - misdiagnosis - carpopedal spasm

Publication History

Received: 11 May 2019

Accepted after revision: 21 July 2020

Article published online:
04 September 2020

• References

• 1 Bilezikian JP, Khan A, Potts JT. et al. Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res 2011; 26: 2317-2337
• 2 Clarke BL, Leibson C, Emerson J. et al. Co-morbid- medical conditions associated with prevalent hypoparathyroidism: A population-based study. J Bone Miner Res 2011; 26: S182
• 3 Shoback D. Clinical practice. Hypoparathyroidism. N Engl J Med 2008; 359: 391-400
• 4 Girija AS. Idiopathic hypoparathyroidism with extensive intracranial calcification associated with kinesogenic choreoathetosis. J Assoc Physicians India 2000; 48: 938-939
• 5 De Sanctis V, Soliman A, Fiscina B. Hypoparathyroidism: From diagnosis to treatment. Curr Opin Endocrinol Diabetes Obes 2012; 19: 435-442
• 6 Underbjerg L, Sikjaer T. Mosekilde et al. Cardiovascular and renal complications to postsurgical hypoparathyroidism: A Danish nationwide controlled historic follow-up study. J Bone Miner Res 2013; 28: 2277-2285
• 7 Niu HF, Zhang YYZ, Liu Ya. Analysis of eighteen cases with hypoparathyroidism misdiagnosed as primary epilepsy. Chin J Pract Nervous Dis 2007; 10: 169-170
• 8 Cooper MS. Disorders of calcium metabolism and parathyroid disease. Best Pract Res Clin Endocrinol Metab 2011; 25: 975-983
• 9 Mannstadt MM, Mitchell DM Clinical manifestations of hypoparathyroidism. In: Bilezikian JP, Marcus R, Levine MA et al., Eds The Parathyroids. London, UK: Academic Press; 2015: 761–770
• 10 Bhadada SK, Bhansali A. Upreti et al. Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism. Neurol India 2011; 59: 586-589
• 11 Philipson B, Angelin B, Christensson T. et al. Hypocalcaemia with zonular cataract due to idiopathic hypoparathyroidism. Acta Medica Scand 1978; 203: 223-226
• 12 Pohjola S. Ocular manifestations of idiopathic hypoparathyroidism. Acta Ophthalmol 1962; 40: 255-265
• 13 Goswami R, Millo T, Mishra S. et al. Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for basal ganglia calcification in hypoparathyroidism. J Clin Endocrinol Metab 2014; 99: 1741-1748
• 14 Li L, Yang H, Li J. et al. Misdiagnosis of idiopathic hypoparathyroidism: A case report and literature review. Medicine 2018; 97: 9
• 15 Lou JF, Liu YL, Jin HY. Analysis of two cases with hypoparathyroidism misdiagnosed as idiopathic basal ganglia calcification. GiLin Med J 2007; 28: 63