TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review
Objective. Association of primary hyperparathyroidism (pHPT) with phosphaturic mesenchymal tumors (PMT) is rarely reported. This report entertains the hypothesis of the causal association of HPT with tumor-induced osteomalacia (TIO) and of the existence of HPT-PMT syndrome. Case Presentation. A 49-y...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-01-01
|
| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2021/5172131 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849683900215853056 |
|---|---|
| author | Michael Salim Mohannad Samy Behairy Elena Barengolts |
| author_facet | Michael Salim Mohannad Samy Behairy Elena Barengolts |
| author_sort | Michael Salim |
| collection | DOAJ |
| description | Objective. Association of primary hyperparathyroidism (pHPT) with phosphaturic mesenchymal tumors (PMT) is rarely reported. This report entertains the hypothesis of the causal association of HPT with tumor-induced osteomalacia (TIO) and of the existence of HPT-PMT syndrome. Case Presentation. A 49-year-old man presented with fragility rib fractures, generalized bone pain, and muscle weakness worsening over the past 3 years. Initial tests demonstrated hypophosphatemia and high PTH. The diagnosis of pHPT was entertained, but parathyroid scan was negative. During a 2-year follow-up, the patient reported minimal improvement of symptoms after intermittent treatment with calcitriol and phosphate. Biochemical evaluation showed persistent hypophosphatemia with renal phosphate wasting, elevated FGF23, and osteopenia on DXA scan. TIO was suspected. Multiple MRIs and whole-body FDG-PET scans were inconclusive. The patient subsequently underwent 68Ga-DOTATATE PET-CT, which revealed a somatostatin receptor-positive lesion in the lung. The resected mass was confirmed as PMT. The patient had dramatically improved symptoms, normal phosphate, calcium, and FGF23. During follow-up over 3 years postsurgery, the patient had slowly rising calcium and persistently elevated PTH. Conclusion. The debate whether the patient had pHPT or tertiary HPT prompted literature review showing that aberrant genes including FGFR1, FGF1, fibronectin 1, and Klotho were mechanistically involved in the HPT-PMT association. This case highlights the pitfalls contributing to delayed diagnosis and treatment of TIO and hypothesizes the association between pHPT and PMT. |
| format | Article |
| id | doaj-art-cb3f04f9fed142e8977e02647fd82b48 |
| institution | DOAJ |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-cb3f04f9fed142e8977e02647fd82b482025-08-20T03:23:38ZengWileyCase Reports in Endocrinology2090-65012090-651X2021-01-01202110.1155/2021/51721315172131TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature ReviewMichael Salim0Mohannad Samy Behairy1Elena Barengolts2Department of Internal Medicine, Mount Sinai Hospital, Chicago, IL 60608, USARoss University School of Medicine, Bridgetown, BarbadosDepartment of Medicine, University of Illinois Medical Center and Department of Medicine, Jesse Brown VA Medical Center, Chicago, IL 60612, USAObjective. Association of primary hyperparathyroidism (pHPT) with phosphaturic mesenchymal tumors (PMT) is rarely reported. This report entertains the hypothesis of the causal association of HPT with tumor-induced osteomalacia (TIO) and of the existence of HPT-PMT syndrome. Case Presentation. A 49-year-old man presented with fragility rib fractures, generalized bone pain, and muscle weakness worsening over the past 3 years. Initial tests demonstrated hypophosphatemia and high PTH. The diagnosis of pHPT was entertained, but parathyroid scan was negative. During a 2-year follow-up, the patient reported minimal improvement of symptoms after intermittent treatment with calcitriol and phosphate. Biochemical evaluation showed persistent hypophosphatemia with renal phosphate wasting, elevated FGF23, and osteopenia on DXA scan. TIO was suspected. Multiple MRIs and whole-body FDG-PET scans were inconclusive. The patient subsequently underwent 68Ga-DOTATATE PET-CT, which revealed a somatostatin receptor-positive lesion in the lung. The resected mass was confirmed as PMT. The patient had dramatically improved symptoms, normal phosphate, calcium, and FGF23. During follow-up over 3 years postsurgery, the patient had slowly rising calcium and persistently elevated PTH. Conclusion. The debate whether the patient had pHPT or tertiary HPT prompted literature review showing that aberrant genes including FGFR1, FGF1, fibronectin 1, and Klotho were mechanistically involved in the HPT-PMT association. This case highlights the pitfalls contributing to delayed diagnosis and treatment of TIO and hypothesizes the association between pHPT and PMT.http://dx.doi.org/10.1155/2021/5172131 |
| spellingShingle | Michael Salim Mohannad Samy Behairy Elena Barengolts TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review Case Reports in Endocrinology |
| title | TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review |
| title_full | TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review |
| title_fullStr | TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review |
| title_full_unstemmed | TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review |
| title_short | TIO Associated with Hyperparathyroidism: A Rarity, a Rule, or a Novel HPT-PMT Syndrome—A Case Study with Literature Review |
| title_sort | tio associated with hyperparathyroidism a rarity a rule or a novel hpt pmt syndrome a case study with literature review |
| url | http://dx.doi.org/10.1155/2021/5172131 |
| work_keys_str_mv | AT michaelsalim tioassociatedwithhyperparathyroidismararityaruleoranovelhptpmtsyndromeacasestudywithliteraturereview AT mohannadsamybehairy tioassociatedwithhyperparathyroidismararityaruleoranovelhptpmtsyndromeacasestudywithliteraturereview AT elenabarengolts tioassociatedwithhyperparathyroidismararityaruleoranovelhptpmtsyndromeacasestudywithliteraturereview |