Characterization of primary hyperparathyroidism based on target organ involvement: An analysis from the Indian PHPT registry.

BACKGROUND: It has been a matter of debate for long time about the existence of two distinct phenotypes of primary hyperparathyroidism (PHPT) predisposed to either renal or skeletal manifestation. OBJECTIVE: To differentiate characteristics of symptomatic PHPT patients based on the presence of skeletal or renal involvement. DESIGN: Retrospective analysis of data from the Indian PHPT registry. PATIENTS: PHPT patients were divided into four discrete groups: asymptomatic, presenting with renal manifestations alone, skeletal manifestations alone, and both skeletal and renal manifestations. MEASUREMENTS: Clinical, biochemical, and tumour weight and histopathological characteristics of these groups were compared. RESULTS: Of the 229 eligible patients, 45 were asymptomatic, 62 had renal manifestations, 55 had skeletal manifestations, and 67 had both skeletal and renal manifestations. Patients with both skeletal and renal manifestations had higher serum calcium levels than those with isolated skeletal involvement [12.5 (11.1-13.7) mg/dL, 11.2 (10.6-12.3) mg/dL, respectively; p < .05]. Serum alkaline phosphatase (AP), plasma parathyroid hormone (PTH) levels, and parathyroid tumour weight were significantly higher in patients with isolated skeletal, and both skeletal and renal manifestations, compared to the other two groups. A preoperative PTH and AP level of 300 pg/mL and 152 U/L, predicted the risk of developing skeletal involvement with sensitivity and specificity of 71%, 70%, and 69%, 67%, respectively. CONCLUSIONS: We observed distinct skeletal and renal phenotypic subgroups among PHPT patients with characteristic biochemical and hormonal patterns with higher parathyroid disease burden in patients with skeletal complications compared to those with isolated renal manifestation.

Revisiting Captain Charles Martell: witnessing the true face of primary hyperparathyroidism even in the twenty-first century.

BACKGROUND: Severe presentation of primary hyperparathyroidism (PHPT) which, although, common in the Asian population, is albeit rarely encountered in the present era. CASE PRESENTATION: We present a 23-year-old lady whose symptoms began in 2016 with generalized body aches. Subsequently, her husband noticed a reduction in her height and she developed gradual protrusion of chest. Meanwhile, she conceived in November 2019 and delivered a full-term healthy baby girl. She breastfed her baby for 18 months during which her symptoms worsened. On examination, she measured only 123 cm, having lost nearly 23 cm in height. She had a short neck, pectus carinatum-like deformity of chest, protruded abdomen, kyphosis, and scoliosis. Investigations revealed PTH-dependent hypercalcemia, diffuse cortical thinning, brown tumors, codfish vertebrae, and bilateral nephrolithiasis. A diagnosis of primary hyperparathyroidism (PHPT) was made with the grave clinical picture bearing a striking resemblance to that of Captain Charles Martell, the first ever recorded case of PHPT in the world. CONCLUSION: The index case highlights the fact that PHPT, if left undiagnosed and untreated, can have debilitating consequences. A high index of suspicion should be exercised while evaluating all suspected cases of metabolic bone disorders and being the third most common endocrine disorder, the possibility of PHPT should be entertained wherever appropriate.