Cic edizioni internazionali
Clinical Cases in mineral and bone metabolism

Atypical femur fractures: a distinctive tract of adult hypophosphatasia

Mini-Review, 324 - 328
doi: 10.11138/ccmbm/2017.14.3.324
Tag this article
Abstract
Enhanced HTML Full text PDF
Hypophosphatasia (HPP) is a congenital, rare and heterogeneous bone disorder, characterized by a deficit of calcified tissue mineralization, leading to skeletal deformities and osteomalacia in adults, rickets in infants and children, and fragility fractures and premature loss of dentition in children and adults. The disease is caused by a reduced or absent expression and activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, derived from inactivating mutations of the alkaline phosphatase (ALPL) gene.
Six different clinical variants have been reported, defined by the onset age and characterized by different degrees of severity.
The adult form of HPP presents a wide range of clinical manifestations, many of which are non-specific, mild, and often overlapping with other metabolic bone diseases.
Consequently, many cases of adult HPP are, commonly, undiagnosed or misdiagnosed, and, subsequently, wrongly or non-treated with severe consequences for patients and a very negative impact on their quality of life and life expectancy, as well as with costs due to the administration of wrong therapies and treatments of their side effects.
The occurrence of a fragility atypical femur fracture in the adulthood can be suspected as a clinical indication of an undiagnosed adult mild form of HPP; and the presence of at least one of this kind of fracture can help in the diagnosis of adult HPP, together with conventional HPP biochemical signs.

Vol. XV (No. 1) 2018 January - April

  1. From the Editor-in-Chief
    Brandi M.L.
    doi: 10.11138/ccmbm/2017.15.1.007
  2. The use of null-hypothesis significance testing: issues and solutions
    Gronchi G., Brandi M.L.
    doi: 10.11138/ccmbm/2017.15.1.009
  3. Role of Mediterranean diet in bone health
    Migliaccio S., Marrocco C., Mocini E., Lenzi A., Greco E.A.
    doi: 10.11138/ccmbm/2017.15.1.016
  4. The Mediterranean diet for bone health in osteoporosis. Children and adolescents
    Pampaloni B., Quattrini S., Brandi M.L.
    doi: 10.11138/ccmbm/2017.15.1.019
  5. Parmigiano Reggiano cheese: a super-food for bone health
    Pampaloni B., Cianferotti L., Ciampi V., Nocetti M., Brandi M.L.
    doi: 10.11138/ccmbm/2017.15.1.029
  6. Pain from osteoporotic fractures: rationale of therapeutic options
    Hans G. Kress
    doi: 10.11138/ccmbm/2017.15.1.036
  7. New therapeutic strategies in the management of chronic pain related to osteoporosis
    Arghetti S., Magenta P., Racagni M.
    doi: 10.11138/ccmbm/2017.15.1.041
  8. Atypical femur fractures
    Cozzi Lepri A., Capone A., Del Prete A., Soderi S., Muncibì F., Civinini R.
    doi: 10.11138/ccmbm/2017.15.1.043
  9. Surgical strategies for high-energy fractures in patients with osteoporosis
    Cozzi Lepri A., Capone A., Del Prete A., Soderi S., Soderi S., Muncibì F., Innocenti M.
    doi: 10.11138/ccmbm/2017.15.1.060
  10. Sequential therapy: the way to go to prevent fragility fractures
    Gonnelli S., Alessandri M., Caffarelli C.
    doi: 10.11138/ccmbm/2017.15.1.066
  11. Atypical fractures following prolonged bisphosphonate use: a report of two cases
    Daniel-Lavee G., Nudelman P., Deltoff M., Shtarker H.
    doi: 10.11138/ccmbm/2017.15.1.070
  12. Osteoporosis treatment following a low trauma wrist fracture presenting to the Accident and Emergency Department from 2011 to 2015
    Sim Yeap S., Mat Akhir N.S., Thirunavukkarasu V., Thambiah S.C., Samsudin I.N., Zahari Sham S.Y., Balan P., Hew1 F.L., Chan S.P.
    doi: 10.11138/ccmbm/2017.15.1.074
  13. Low intestinal tract adenomatous polyps regression in FAP patients by dietary-induced erbeta upregulation
    Tonelli F., Fabbri S., Ficari F., Batignani G., Femia A.P., Caderni G., Brandi M.L.
    doi: 10.11138/ccmbm/2017.15.1.079
  14. Calcific arteriolopathy beyond chronic kidney disease. The role of hemochromatosis and vitamin K antagonists
    Rodelo-Haad R.-H., De La Puebla Gimenez R.F., Ortega R., Rodriguez M., Aljama P.
    doi: 10.11138/ccmbm/2017.15.1.085
  15. Successful treatment of gonadotropin releasing hormone induced severe pregnancy and lactation-associated osteoporosis with teriparatide
    Tahsini Tekantapeh S., Khabbazi A.
    doi: 10.11138/ccmbm/2017.15.1.089
  16. Serious osteoporomalacia with vertebral fracturing progression in bariatric surgery: case report
    Bruno R., Seriolo C., Palermo A., Nardi A., Molfetta L.
    doi: 10.11138/ccmbm/2017.15.1.094
  17. Late diagnosis of angioleiomyoma of the knee: a case report
    Galanakos S.P., Mavrogenis A.F., Ignatiadis I., Macheras G.A.
    doi: 10.11138/ccmbm/2017.15.1.097
  18. A rare case of Melnick Needles syndrome. Case report and brief review of literature
    Mangaraj S., Choudhury A.K., Mishra I., Patro D., Baliarsinha A.K.
    doi: 10.11138/ccmbm/2017.15.1.100
  19. Coexistence of torus palatinus and acromegaly, an association with a common origin
    Morales J., Folleco M.
    doi: 10.11138/ccmbm/2017.15.1.103
  20. Thoracic and lumbar spinal stenosis in a patient with Klippel-Feil syndrome
    Igoumenou V.G., Karantzoulis V.G., Vazifehdan F.
    doi: 10.11138/ccmbm/2017.15.1.107
  21. Acute deafness as the first symptom of paraneoplastic syndrome: experience of two cases
    Wang X., Yu X.
    doi: 10.11138/ccmbm/2017.15.1.111
  22. Severe secondary osteoporosis in a premenopausal woman: should a specific treatment for osteoporosis be started?
    Baleanu F., Iconaru L., Karmali R., Body J.-J.
    doi: 10.11138/ccmbm/2017.15.1.115
  23. Osteogenesis imperfecta type V: clinico-radiological diagnosis of two cases in a limited resource setting
    Chawla M., Bhardwaj G.
    doi: 10.11138/ccmbm/2017.15.1.119
  24. Multi-organ extraosseous 99mTc-HMDP uptake in a case of metastatic melanoma
    Calandri E., Aretano I., Pultrone M., Liberatore M.
    doi: 10.11138/ccmbm/2017.15.1.123
  25. Bilateral transient osteoporosis of the hip. A case report and review of the literature
    Pallis D., Florin Georgiou D., Rizou S., Symeonidou Z., Sarzi-Puttini P., Troupis T., Casale R.
    doi: 10.11138/ccmbm/2017.15.1.128
  26. Effects of endocrine disrupting compounds on Vitamin D circulating levels
    Fossi C., Pampaloni B., Brandi M.L.
    doi: 10.11138/ccmbm/2017.15.1.132
Last Viewed articles: la lista degli ultimi x visitati.
  1. Atypical femur fractures: a distinctive tract of adult hypophosphatasia
    Marini F., Brandi M.L.
    doi: 10.11138/ccmbm/2017.14.3.324
credits