Severe Hypophosphatemia: The Hidden Truth (original) (raw)
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A unique case of adult hypophosphatemic osteomalacia
Bone, 1993
A 36-year-old Russian man presented with neck and low back pain in September હ990. He was of normal stature, and there were no stigmata of rickets. The family history was negative for bone disease. He was found to have Itypophosphatemia (હ .3 mg/dl), impaired phosphate reabsorption (TmP/GFR હ .08), hyperphosphatasemia (હ54 IU/હ), normocalcemia, normal vitamin D metabolite levels, and secondary hyperparathyroidisrn. Clinically, his spinal movements were quite impaired and there was moderate proximal muscle weakness. On skeletal radiographs, there was generalized osteosclerosis and multiple ligamentous calcifications. Transiliac biopsy was diagnostic for severe osteomalacia. He was treated with oral phosphate (હ40 mEq daily) and calcitriol (4 pg daily) with resultant very slow clinical, biochemical, and histomorphologic improvement. The patient had hypophosphatemic osteomalacia with some features of X-linked hypophosphatemia, but sporadic and of relatively late onset. The osteopenia, height loss, incapacitating weakness, and glycinurla that are characteristic of sporadic adult onset nonfamilial hypophosphatemia, with or without an associated tumor, and the low serum calcitriol levels that may be an additional characteristic of tumorinduced osteomalacia were absent. Other known causes of acquired renal tubular dysfunction were ruled out. The etiology, pathogenesis, and nosology of the disorder remain obscure, but treatment based on experience with other forms of hypophosphatemic osteomalacia was ultimately effective .
Bone densitometry in a patient with hypophosphatemic osteomalacia
Journal of Bone and Mineral Metabolism, 2004
disease, growth retardation, hypophosphatemia with normal parathyroid hormone (PTH) levels, and inappropriately normal 1,25-dihydroxyvitamin D concentrations for serum phosphorus levels . Inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been found responsible for XLH . ADHR is a less common form of hypophosphatemic rickets with similar biochemical disturbances, but in contrast to XLH it has variable and incomplete penetrance . Recently, fibroblast growth factor (FGF) 23 missense mutations have been identified in several ADHR families . Interestingly, mutational analysis of FGF23 in 18 patients who had hypophosphatemic rickets but did not have PHEX mutations revealed no abnormalities, suggesting one or more roles for other genes in the hereditary disorders of hypophosphatemic rickets/osteomalacia .
Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis
2012
Diagnosing oncogenic osteomalacia is still a challenge. The disorder is characterized by osteomalacia caused by renal phosphate wasting and low serum concentration of 1,25-dihydroxyvitamin D 3 occurring in the presence of a tumor that produces high levels of fibroblast growth factor 23. However, it is possible that the disease is much more misdiagnosed than rare. We present the case of a 42-year-old man with a long-term history of undiagnosed progressive muscle weakness. His laboratory results mainly showed low serum phosphate. Surgical removal of a nasal hemangiopericytoma that had been diagnosed five years earlier, brought him to a symptom-free condition. Even though knowing the underlying etiology would explain his osteomalacia, the patient sought medical help from countless physicians for five consecutive years, and only after adequate treatment a rewarding outcome was achieved.
Renal phosphate wasting due to tumor-induced osteomalacia: a frequently delayed diagnosis
Kidney …, 2008
A 52-year-old white female with a history of profound hypophosphatemia, muscle weakness, and multiple debilitating atraumatic fractures was referred in March 2004 for evaluation at the Mineral Metabolism Clinic. Five years prior, she had sustained bilateral rib fractures which failed to heal. In May 2000, she was diagnosed with primary hyperparathyroidism based on serum calcium of 10.4 mg/dl (reference range 8.4-10.2 mg/dl), parathyroid hormone (PTH) of 97 pg/ml (reference 10-65 pg/ml), phosphorus of 2.0 mg/dl (reference 2.5-4.5 mg/dl), and alkaline phosphatase of 420 IU/l (reference 38-126 IU/l). Bone density measured by dual energy X-ray absorptiometry (DXA) revealed T-scores of −2.9 (lumbar spine) and −3.5 (femoral neck), indicative of osteoporosis. In July 2000, the patient underwent partial parathyroidectomy with removal of two parathyroid glands (histologic diagnosis: adenoma for left superior gland, normal for left inferior gland). Intraoperatively, serum PTH fell from 58 to 13 pg/ml at 24 min post-excision. In the ensuing months, serum calcium normalized, but PTH remained elevated and serum phosphorus remained low. One year after the first parathyroid surgery, the patient underwent a subtotal parathyroidectomy (histologic diagnosis: hyperplasia), leaving only about 20-30 mg of the right inferior gland, and was placed on low dose calcitriol (0.5 μg daily). Over the next three years, she progressively lost mobility due to muscle weakness, requiring assistance in ambulation. She developed multiple additional atraumatic fractures (bilateral superior and inferior pubic ramus, bilateral femoral head, radial neck, ulnar, and multiple vertebral) resulting in kyphosis. After repeated neurological and rheumatological evaluations, she was referred to our clinic. In June 2004, she complained of profound fatigue and severe pain in the low back and thoracic area and required a walker for ambulation. Physical examination revealed a well-nourished kyphotic woman, with a widebased gait and generalized decreased muscle strength (4/5). An iliac crest bone biopsy and clinical biochemistry evaluation were performed. BONE BIOPSY The bone biopsy (Figure 1) revealed a marked increase in osteoid parameters for both cortical and cancellous bone, including osteoid volume (11.9 and 56.1% of total bone volume, for cortical and cancellous bone respectively), osteoid surface (78.9 and 93.6% of total bone
Hypophosphatemic osteomalacia: a report of five cases and evaluation of bone markers
Journal of Bone and Mineral Metabolism, 2005
In this study, we analyzed the changes in biochemical markers of bone turnover in five patients with hypophosphatemic osteomalacia. The following bone markers were evaluated: among bone formation markers, total alkaline phosphatase (TAP), bone alkaline phosphatase (BAP), osteocalcin (bone Gla protein, BGP) and procollagen type I N propeptide (PINP); among bone resorption markers, serum β C-terminal cross-linked telopeptide of type I collagen (s-CTx), urinary hydroxyproline (HYP), and N-terminal and α and β C-terminal cross-linked telopeptides of collagen (NTx and α- and β-CTx). In addition, the α/β-CTx ratio was evaluated. TAP and BAP were the markers with the highest increase in both frequency and magnitude. Conversely, BGP values were low in all patients. Collagen-related markers were slightly increased in nearly half of the patients. Among them, PINP showed the highest proportion of increased values. The α/β-CTx ratio was within normal values in all patients. In conclusion, TAP and BAP seem to be the best bone markers in the diagnostic evaluation of hypophosphatemic osteomalacia. In addition, their high values associated with low levels of BGP provide an even more reliable biochemical profile of this disorder, when associated with the classic mineral and skeletal homeostasis abnormalities.
Identifying the culprit lesion in tumor induced hypophosphatemia, the solution of a clinical enigma
Endocrine, 2016
Tumor-induced osteomalacia is a rare acquired metabolic bone disorder characterized by isolated renal phosphate wasting due to abnormal tumor production of fibroblast growth factor 23. We report the case of a 59 year old woman referred to our department with a long history of progressive diffuse muscle weakness and pain, generalized bone pains and multiple insufficiency fractures of heels, ankles and hips due to a hypophosphatemic osteomalacia. A fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle was identified 7 years after onset of symptoms. Excision of the tumor resulted in normalization of serum phosphate and fibroblast growth factor 23 levels and in complete resolution of the clinical picture with disappearance of all musculoskeletal symptoms. This case illustrates the diagnostic difficulties in establishing a diagnosis tumor-induced osteomalacia and in identifying the responsible tumor. Our case underscores the clinical need to investigate all patients with persistent musculoskeletal symptoms for hypophosphatemia. A systematic approach is of pivotal importance because early recognition and treatment of the metabolic abnormality can prevent deleterious effects of osteomalacia on the skeleton.
Endokrynologia Polska
The clinical manifestation of oncogenic osteomalacia includes bone pain, pathological fractures, general fatigue and muscle weakness. Such unspecific symptoms hinder the establishment of a proper diagnosis which very often requires long-lasting investigations with many diagnostic imaging methods. Here, we discuss difficulties in the diagnosis of oncogenic osteomalacia using the example of our own clinical case: a 56 year-old woman with a history of pain in the left hip and two years of walking difficulties. A plain radiograph and CT scan revealed pathological fractures. Multiple myeloma, primary hyperparathyroidism and bone metastatic disease were excluded. Routine laboratory tests showed elevated alkaline phosphatase and a mild degree of hypophosphatemia. CT and MR imaging confirmed the presence of a pathological mass in the thorax. Tumour excision and histopathological test results revealed the diagnosis of a phosphaturic mesenchymal tumour. Our case, showing the clinical course o...
International journal of surgery case reports, 2016
The physical incapacitation of the oncogenic hypophosphatemic osteomalacia (OHO) can be catastrophic and can lead to deformities, metabolic and organic instability and death. The only positive outcome is through early diagnosis by the clinical suspicion. At this moment, medical center infrastructure is also a keypoint. This case report is about a 60-year old woman with multiple fractures, gradual loss of strength and muscle mass and limiting deformities in two years of evolution until the diagnostic. The lack of knowledge of this disease causes a delay in diagnosis that can bring deformities to the patient, as well as death. Is crucial that is hypothesized to carry out the necessary tests, since they are expensive and not always available. This case reinforces the importance to understand the OHO and tumoral search, once this lesion is, in most cases, imperceptible to physical examination or several imaging studies.
Case reports in endocrinology, 2012
We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent with high bone mass found on bone mineral density reports. PHEX gene mutation analysis was negative. Patient was started on calcium and phosphorus replacement, and he clinically improved. This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia.