Clinical, radiographic and biochemical characteristics of adult hypophosphatasia

Schmidt, Tobias; Mussawy, Haider; Rolvien, Tim; Hawellek, Thelonius; Hubert, Jan; Rüther, W.; Barvencik, Florian

doi:10.1007/s00198-017-4087-z

Cited by 90 publications

(111 citation statements)

References 37 publications

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“…One limitation of the study population regards the clear distinction of “carriers” of ALPL mutation and overt HPP patients. All patients in this study showed at least one clinical symptom that has been associated with HPP in other studies . However, as musculoskeletal symptoms increase in the elderly population, it is somewhat problematic to attribute these symptoms completely to HPP in patients with only moderately reduced low ALP activity.…”

Section: Discussionmentioning

confidence: 57%

“…Although the perinatal and infantile forms are associated with severe reduction of mineralized bone and high mortality caused by respiratory failure, the adult form shows a highly variable clinical severity . These patients suffer from fractures, osteomalacia, muscle pain, recurring headaches, and intra‐articular calcium PPi dehydrate crystal deposition (CPPD) . The severity of the clinical manifestation correlates with the accumulation of ALP substrates, in particular PLP .…”

Section: Introductionmentioning

confidence: 99%

“…These patients suffer from fractures, osteomalacia, muscle pain, recurring headaches, and intra‐articular calcium PPi dehydrate crystal deposition (CPPD) . The severity of the clinical manifestation correlates with the accumulation of ALP substrates, in particular PLP . Patients suffering from the adult form frequently present with recurrent stress fractures of the metatarsals and subtrochanteric or diaphyseal femoral fractures .…”

Section: Introductionmentioning

confidence: 99%

“…(4,5) The severity of the clinical manifestation correlates with the accumulation of ALP substrates, in particular PLP. (5,6) Patients suffering from the adult form frequently present with recurrent stress fractures of the metatarsals and subtrochanteric or diaphyseal femoral fractures. (4,5,7,8) Most of these fractures are associated with slow and often delayed fracture healing and can progress to more complicated fractures.…”

Section: Introductionmentioning

confidence: 99%

“…(5,6) Patients suffering from the adult form frequently present with recurrent stress fractures of the metatarsals and subtrochanteric or diaphyseal femoral fractures. (4,5,7,8) Most of these fractures are associated with slow and often delayed fracture healing and can progress to more complicated fractures. The therapy options for these fracture healing complications are still very limited.…”

Section: Introductionmentioning

confidence: 99%

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Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

et al. 2019

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The response to teriparatide has been described in very few cases of hypophosphatasia (HPP). In this cross‐sectional study, we report the prevalence of symptomatic bone marrow edema (BME) and fracture healing complications in a large cohort of childhood and adult HPP patients and discuss the results of teriparatide treatment in four cases. From 2016 to 2018, 51 patients with a diagnosis of HPP were seen at our institution. The diagnosis of HPP was established by low serum alkaline phosphatase (ALP), elevated serum pyridoxal‐5‐phosphate (PLP), at least one typical clinical symptom of HPP and supported by ALPL mutation analysis. In this study cohort, 28 (56%) and 14 (27%) patients had a history of fracture or a history of BME, respectively. Four patients, including middle‐aged to elderly women and men who all presented with persistent symptomatic BME or fracture healing complications, were treated with teriparatide. DXA was performed prior to treatment and laboratory values were measured on a regular basis during treatment. Treatment with teriparatide showed variable effects in terms of clinical and biochemical response. Although all four patients displayed a temporary increase in ALP activity, only two patients with a mild form of adult HPP and moderately increased PLP levels showed definite clinical and radiological improvement after teriparatide treatment. In conclusion, fracture healing complications and BME occur frequently in HPP patients. Teriparatide shows variable clinical and biochemical effects depending on the severity of the disease. PLP levels and the number of ALPL alleles might be good parameters to predict treatment outcomes. © 2019 The Authors. JBMR Plus Published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research

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Section: Discussionmentioning

confidence: 57%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

et al. 2019

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Young woman with hypophosphatasia: A case report

Siami

Parsamanesh

Kivi

2022

Clinical Case Reports

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Hypophosphatasia is a rare inherited disease defined by teeth and bone mineralization impairment leading to depletion of tissue non‐specific alkaline phosphatase. We define a young woman diagnosed with hypophosphatasia (after several times alkaline phosphatase levels were low) was discovered following femoral fracture. A 30‐year‐old woman who presented for a history of early permanent teeth loss during the last 5 years and HPP‐like symptoms in family history and bone radiograph verified bowing, deficient mineralization, and symmetrical subtrochanteric stress fractures of femurs was referred to our clinic for further management. Blood test findings defined raised phosphorus levels on two occasions at 6.2 and 5.7 mg/dl and insufficient 25‐hydroxy vitamin D level. HPP early diagnosis and adequate treatment, depending on the clinical symptoms along with laboratory tests, could be effective in decreasing the suffering of the disease and side effects.

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Bisphosphonate Use and Fractures in Adults with Hypophosphatasia

et al. 2019

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Adults with hypophosphatasia (HPP) may suffer femoral fractures resembling the atypical femoral fractures that can occur with long‐term bisphosphonate treatment, and there is an emerging consensus that bisphosphonates should not be used in adults with HPP and low bone mass. However, the spectrum of HPP in adults is wide: ranging from the severely affected—who commonly have osteomalacia—through to the minimally affected. The former typically have biallelic and the latter, heterozygous ALPL mutations. We have reviewed reports of fractures in adults with genetically proven HPP which suggest that the risk of fracture is at least 200‐fold greater in those with biallelic mutations. We also discuss two cases of postmenopausal women with heterozygous ALPL mutations. One had fractures and severe osteoporosis, but histology revealed no evidence of osteomalacia. The second had taken alendronate for 8 years, but despite profound suppression of bone turnover, histology again revealed no evidence of osteomalacia. The management of adults with HPP who have coexisting osteoporosis is challenging. More data are clearly needed, but we suggest that the risks of bisphosphonate therapy may be relatively low in patients who have heterozygous mutations and no histological evidence of osteomalacia. © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

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Clinical, radiographic and biochemical characteristics of adult hypophosphatasia

Abstract: Adult HPP presents with a wide range of clinical symptoms and is not associated with low bone mass in general. PLP seems to be a good marker for disease severity in adult patients as its level is correlated with the occurrence of fractures and number of symptoms.

Cited by 90 publications

References 37 publications

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

Young woman with hypophosphatasia: A case report

Bisphosphonate Use and Fractures in Adults with Hypophosphatasia

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