Tertiary Hyperparathyroidism Attributable to Long-Term Oral Phosphate Therapy

McHenry, Christopher R.; Mostafavi, Kian; Murphy, Timothy

doi:10.4158/ep.12.3.294

Cited by 14 publications

(6 citation statements)

References 17 publications

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“…Phosphate replacement in XLH is associated with increases in PTH levels. It is postulated that high oral phosphate doses lower ionised calcium thereby stimulating PTH release through activation of the parathyroid gland calcium-sensing receptor [10,11]. However, hyperparathyroidism is sometimes seen even before the onset of medical therapy.…”

Section: Discussionmentioning

confidence: 99%

Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

Chin

Zhao

Tay

et al. 2021

Case Reports in Endocrinology

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X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is often missed, resulting in patients presenting late in the course of the disease when complications such as tertiary hyperparathyroidism and renal failure have already set in. Phosphate and calcitriol replacement, both of which have undesirable consequences of their own, have historically been the main stay of therapy. We describe the case of a 57-year-old gentleman with tertiary hyperparathyroidism, who was mislabelled as having achondroplasia for many years before we made a diagnosis of XLH in him. His XLH was found to be due to a hereto unreported deletion of entire exon 14 with partial deletions of introns 13 and 14 of the PHEX gene. Perioperative management in him was fraught with surgical and medical difficulties including an operation that was technically complicated due to his multiple anatomical deformities. Our case also highlights the critical importance of timely recognition and accurate diagnosis of XLH, as well as the long-term multidisciplinary management that is needed for this disorder.

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Section: Discussionmentioning

confidence: 99%

Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

Chin

Zhao

Tay

et al. 2021

Case Reports in Endocrinology

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“…Adult XLH patients may also present with extra-skeletal manifestations including dental complications (e.g. periodontitis, tooth decay and dental abscesses), nephrocalcinosis, hyperparathyroidism requiring parathyroidectomy (when not efficiently managed with cinacalcet [39][40][41][42][43][44][45]), cardiovascular abnormalities (i.e. early-onset hypertension, left ventricular hypertrophy [46,47]), and hearing loss [48].…”

Section: Adult Xlh Profile: Clinical Presentation and Diagnosismentioning

confidence: 99%

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review

et al. 2021

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X-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical evidence highlighting the long-term multi-organ sequelae of chronic phosphate wasting and consequent hypophosphatemia over the lifetime and the morbidities associated with adult age, XLH is still perceived as a paediatric disease. Introduction Children who have XLH need to transition from paediatric to adult healthcare as young adults. While there is general agreement that all affected children should be treated (if the administration and tolerability of therapy can be adequately monitored), there is a lack of consensus regarding therapy in adults. Methods To provide guidance in both diagnosis and treatment of adult XLH patients and promote better provision of care for this potentially underserved group of patients, we review the available clinical evidence and discuss the current challenges underlying the transition from childhood to adulthood care to develop appropriate management and follow-up patterns in adult XLH patients.Results and Conclusions Such a multi-systemic lifelong disease would demand that the multidisciplinary approach, successfully experienced in children, could be transitioned to adulthood care with an integration of specialized sub-disciplines to efficiently control musculoskeletal symptoms while optimizing patients' QoL. Overall, it would be desirable that transition to adulthood care could be a responsibility shared by the paediatric and adult XLH teams. Pharmacological management should require an adequate balance between the benefits derived from the treatment itself with complicated and long-term monitoring and the potential risks, as they may differ across age strata.

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“…The magnitude of elevations in serum PTH levels is always much greater in patients on dialysis, although one of the authors (DSR) has seen a few patients with tertiary hyperparathyroidism due to chronic vitamin D depletion with serum PTH levels >1,000 pg/ml (>106 pmol/L). In contrast, serum PTH levels in tertiary hyperparathyroidism due to oral P therapy rarely exceed 500 pg/ml (>53 pmol/L) [ 7,8 ] .…”

Section: Clinical Presentationmentioning

confidence: 99%

“…In addition, hyperphosphatemia independently lowers the serum Ca, further exacerbating PTH hypersecretion [ 3,4 ] . Even in patients with severe hypophosphatemia, due to either genetic disorders or tumor-induced osteomalacia, long-term oral phosphate therapy leads to hyperparathyroidism and can produce hypercalcemic secondary hyperparathyroidism, a scenario mimicking tertiary hyperparathyroidism [ 7,8 ] . Finally, prolonged and severe vitamin D deficiency can evolve from an initial state of hypocalcemic secondary hyperparathyroidism, associated with osteomalacia, to hypercalcemic secondary hyperparathyroidism or even tertiary hyperparathyroidism in exceedingly rare cases, often restricted to case reports [ 6 ] .…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

“…It is important and necessary to distinguish hypercalcemia due to tertiary hyperparathyroidism from postrenal transplant hypercalcemia, which occurs in almost all transplant recipients. Tertiary hyperparathyroidism also occurs occasionally in two other situations: in patients with prolonged vitamin D defi ciency due to unrecognized malabsorption [ 6 ] and in patients on long-term oral phosphate (P) therapy for hypophosphatemic disorders [ 7,8 ] .…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

See 1 more Smart Citation

Tertiary Hyperparathyroidism Pathogenesis, Clinical Features, and Medical Management

Rao

Shoback

2011

Handbook of Parathyroid Diseases

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Tertiary Hyperparathyroidism Attributable to Long-Term Oral Phosphate Therapy

Cited by 14 publications

References 17 publications

Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review

Tertiary Hyperparathyroidism Pathogenesis, Clinical Features, and Medical Management

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