Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man
ABSTRACT: Objective: Tumor-induced osteomalacia (TIO), caused predominantly by phosphaturic mesenchymal tumor (PMT), is a rare paraneoplastic syndrome characterized by renal phosphate wasting and 1,25-dihydroxyvitamin D deficiency. Resection is curative; however, diagnosis is frequently delayed or m...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2017-01-01
|
| Series: | AACE Clinical Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060520304132 |
| _version_ | 1818723417397919744 |
|---|---|
| author | Jonathan Chan, MD Christine James, DO Kokab Darbandi, MD David Burch, MD Patrick Bacaj, MD Jennifer Cheng, DO |
| author_facet | Jonathan Chan, MD Christine James, DO Kokab Darbandi, MD David Burch, MD Patrick Bacaj, MD Jennifer Cheng, DO |
| author_sort | Jonathan Chan, MD |
| collection | DOAJ |
| description | ABSTRACT: Objective: Tumor-induced osteomalacia (TIO), caused predominantly by phosphaturic mesenchymal tumor (PMT), is a rare paraneoplastic syndrome characterized by renal phosphate wasting and 1,25-dihydroxyvitamin D deficiency. Resection is curative; however, diagnosis is frequently delayed or missed due to the inherent characteristics of the tumor and poor recognition.Methods: We report the case of a 44-year-old male with PMT, with a focus on work-up progression and the elusiveness of diagnosis.Results: The patient presented with hip pain and difficulty in ambulation and was found to have numerous skeletal fractures and avascular necrosis of the hips. Serum laboratory studies showed very low phosphorus, normal calcium, and high parathyroid hormone levels. Ultrasound and nuclear imaging showed no parathyroid adenoma. 25-Hydroxyvitamin D level was low, suggesting a secondary hyperparathyroidism. This might have been the leading differential diagnosis; however, a mass was noted on the volar aspect of the patient's left hand. This was biopsied, and pathology demonstrated features consistent with PMT. A fibroblast growth factor 23 (FGF-23) level returned extremely elevated, confirming the diagnosis of TIO secondary to PMT. The mass was resected. Six weeks postresection, FGF-23 and phosphorus had returned to within normal limits, and the patient was improving clinically.Conclusion: PMT causes severe osteomalacia and debilitation in relatively young individuals; skeletal fractures and hypophosphatemia result in extreme pain and weakness. Resection is curative if the tumor is identified; however, TIO/PMT can be missed despite a thorough work-up if not specifically suspected. PMT should be considered any time a patient presents with osteomalacia and hypophosphatemia.Abbreviations: CT computed tomography; FGF-23 fibroblast growth factor 23; MRI magnetic resonance imaging; PMT phosphaturic mesenchymal tumor; PTH parathyroid hormone; TIO tumor-induced osteomalacia |
| first_indexed | 2024-12-17T21:10:11Z |
| format | Article |
| id | doaj.art-d85a7dc268bb4413b7b3670688c3c2bf |
| institution | Directory Open Access Journal |
| issn | 2376-0605 |
| language | English |
| last_indexed | 2024-12-17T21:10:11Z |
| publishDate | 2017-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | AACE Clinical Case Reports |
| spelling | doaj.art-d85a7dc268bb4413b7b3670688c3c2bf2022-12-21T21:32:28ZengElsevierAACE Clinical Case Reports2376-06052017-01-0134313316Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD ManJonathan Chan, MD0Christine James, DO1Kokab Darbandi, MD2David Burch, MD3Patrick Bacaj, MD4Jennifer Cheng, DO5From the Department of Internal Medicine, West Virginia University, Morgantown, West Virginia.; Address correspondence to Dr. Jonathan Chan, Department of Internal Medicine, West Virginia University, 1 Medical Center Drive, Morgantown, WV 26505.Department of Pathology, West Virginia University, Morgantown, West Virginia.; Equal first authorsFrom the Department of Internal Medicine, West Virginia University, Morgantown, West Virginia.Department of Pathology, West Virginia University, Morgantown, West Virginia.Department of Pathology, West Virginia University, Morgantown, West Virginia.From the Department of Internal Medicine, West Virginia University, Morgantown, West Virginia.ABSTRACT: Objective: Tumor-induced osteomalacia (TIO), caused predominantly by phosphaturic mesenchymal tumor (PMT), is a rare paraneoplastic syndrome characterized by renal phosphate wasting and 1,25-dihydroxyvitamin D deficiency. Resection is curative; however, diagnosis is frequently delayed or missed due to the inherent characteristics of the tumor and poor recognition.Methods: We report the case of a 44-year-old male with PMT, with a focus on work-up progression and the elusiveness of diagnosis.Results: The patient presented with hip pain and difficulty in ambulation and was found to have numerous skeletal fractures and avascular necrosis of the hips. Serum laboratory studies showed very low phosphorus, normal calcium, and high parathyroid hormone levels. Ultrasound and nuclear imaging showed no parathyroid adenoma. 25-Hydroxyvitamin D level was low, suggesting a secondary hyperparathyroidism. This might have been the leading differential diagnosis; however, a mass was noted on the volar aspect of the patient's left hand. This was biopsied, and pathology demonstrated features consistent with PMT. A fibroblast growth factor 23 (FGF-23) level returned extremely elevated, confirming the diagnosis of TIO secondary to PMT. The mass was resected. Six weeks postresection, FGF-23 and phosphorus had returned to within normal limits, and the patient was improving clinically.Conclusion: PMT causes severe osteomalacia and debilitation in relatively young individuals; skeletal fractures and hypophosphatemia result in extreme pain and weakness. Resection is curative if the tumor is identified; however, TIO/PMT can be missed despite a thorough work-up if not specifically suspected. PMT should be considered any time a patient presents with osteomalacia and hypophosphatemia.Abbreviations: CT computed tomography; FGF-23 fibroblast growth factor 23; MRI magnetic resonance imaging; PMT phosphaturic mesenchymal tumor; PTH parathyroid hormone; TIO tumor-induced osteomalaciahttp://www.sciencedirect.com/science/article/pii/S2376060520304132 |
| spellingShingle | Jonathan Chan, MD Christine James, DO Kokab Darbandi, MD David Burch, MD Patrick Bacaj, MD Jennifer Cheng, DO Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man AACE Clinical Case Reports |
| title | Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man |
| title_full | Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man |
| title_fullStr | Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man |
| title_full_unstemmed | Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man |
| title_short | Phosphaturic Mesenchymal Tumor: A Rare Cause of Severe Osteomalacia and Debilitation in A 44-YEAR-OLD Man |
| title_sort | phosphaturic mesenchymal tumor a rare cause of severe osteomalacia and debilitation in a 44 year old man |
| url | http://www.sciencedirect.com/science/article/pii/S2376060520304132 |
| work_keys_str_mv | AT jonathanchanmd phosphaturicmesenchymaltumorararecauseofsevereosteomalaciaanddebilitationina44yearoldman AT christinejamesdo phosphaturicmesenchymaltumorararecauseofsevereosteomalaciaanddebilitationina44yearoldman AT kokabdarbandimd phosphaturicmesenchymaltumorararecauseofsevereosteomalaciaanddebilitationina44yearoldman AT davidburchmd phosphaturicmesenchymaltumorararecauseofsevereosteomalaciaanddebilitationina44yearoldman AT patrickbacajmd phosphaturicmesenchymaltumorararecauseofsevereosteomalaciaanddebilitationina44yearoldman AT jenniferchengdo phosphaturicmesenchymaltumorararecauseofsevereosteomalaciaanddebilitationina44yearoldman |