دورية أكاديمية
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa.
| العنوان: | Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa. |
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| المؤلفون: | Zervou Z; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Plooij R; Erasmus MC, Department of Rehabilitation Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., van Velsen EFS; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Timmermans RGM; Erasmus MC, Department of Rehabilitation Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Demirdas S; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands., Zillikens MC; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands. Electronic address: m.c.zillikens@erasmusmc.nl. |
| المصدر: | European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104915. Date of Electronic Publication: 2024 Feb 05. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier, c2005- |
| مواضيع طبية MeSH: | Hypophosphatasia*/complications , Hypophosphatasia*/drug therapy , Neuralgia*/drug therapy , Immunoglobulin G* , Recombinant Fusion Proteins*, Adult ; Female ; Humans ; Child ; Middle Aged ; Alkaline Phosphatase/therapeutic use ; Quality of Life ; Enzyme Replacement Therapy/methods ; Headache/drug therapy |
| مستخلص: | Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP). Presentation varies largely, with increased severity usually occurring with earlier disease onset. Here we describe the clinical improvement of a 57-year-old woman with childhood onset HPP, after initiating treatment with asfotase alfa (Strensiq®). This was started because of the rapid and progressive radiological deterioration of bone structure after placement of nails in both upper legs for spontaneous atypical femur fracture (AFF) - like fractures. Initiation of treatment, not only resulted in stabilization of bone structure on X-rays, but within a few weeks there was a dramatic reduction of burning pain sensations in the lower legs, attributed in retrospect to neuropathic pain, and also almost complete disappearance of headaches. Additionally, unhealed metatarsal fractures finally healed after almost 10 years. Drug efficacy was further evaluated through -quality of life questionnaires and multiple tests conducted by the physiotherapist, and showed clear improvements. Within 3 months after starting asfotase alfa, the patient was able to carry out her daily tasks indoors without relying on a walker and even started electric bike rides for 20 km/day. In conclusion, treatment with asfotase alfa, halted rapid radiological bone deterioration after bilateral intramedullary femoral pen placement and strongly increased quality of life, marked by rapid disappearance of neuropathic pain, reduction in headaches and musculoskeletal pains, and enhanced muscle strength and mobility. The quick and almost complete disappearance of neuropathic pain and headache suggests a relation with disturbed levels of metabolites in HPP. Competing Interests: Declaration of competing interest The authors declare no conflicts of interest and no competing financial interests exist. (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Asfotase alfa; Femur fracture; Hypophosphatasia; Neuropathic pain; Tissue-nonspecific alkaline phosphatase |
| المشرفين على المادة: | Z633861EIM (asfotase alfa) EC 3.1.3.1 (Alkaline Phosphatase) 0 (Immunoglobulin G) 0 (Recombinant Fusion Proteins) |
| SCR Disease Name: | Hypophosphatasia, Childhood |
| تواريخ الأحداث: | Date Created: 20240207 Date Completed: 20240319 Latest Revision: 20240319 |
| رمز التحديث: | 20240319 |
| DOI: | 10.1016/j.ejmg.2024.104915 |
| PMID: | 38325645 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1878-0849 |
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| DOI: | 10.1016/j.ejmg.2024.104915 |