A concise review on hypophosphatasia with case report

Kaur, Jaspinder; Nourabadi, Soheila; Chavez, Luis; Sachemchi, Issac

doi:10.14419/ijm.v4i2.6397

Cited by 1 publication

(3 citation statements)

References 27 publications

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“…An accumulation of PPi in HPP favours calcium pyrophosphate crystal deposition in and around joints leading to CPPD [1]. CPPD is more common in women with HPP [5,11].…”

Section: Musculoskeletal Presentations Of Hppmentioning

confidence: 99%

“…Hypophosphatasia (HPP) is a genetic disease caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) [ 1 ]. This results in low serum ALP level which is the hallmark of the disease.…”

Section: Introductionmentioning

confidence: 99%

“…Hypophosphatasia has 5 forms based on age of onset and clinical presentation: perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal- and infantile-onset HPP can be fatal without treatment, whereas adult-onset HPP is usually milder and associated with a normal lifespan but can significantly reduce quality of life [ 1 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

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Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology

2023

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Objectives Hypophosphatasia (HPP) is a rare genetic metabolic bone disease that can cause chronic pain and fractures. Its hallmark is a persistently low serum ALP. HPP is now recognised by many osteoporosis specialists, but other specialists, such as rheumatologists and primary care physicians, may be less aware of this condition, causing diagnostic delay and possible harm to these patients. Our objective was to highlight features that can reduce this delay. Methods We retrospectively analysed 14 patients that presented with musculoskeletal pain to general rheumatology clinic at St. George's Hospital and were subsequently diagnosed with HPP. Results Median diagnostic delay was 13 years. All patients had an ALP below reference range for age and gender, with lowest mean ALP of 16 IU/L. All but one patient were women with median age of 51 years. Most common presentation was peripheral joint pain in 85.7% of patients. This was due to early-onset CPPD (calcium pyrophosphate deposition disease) in 71.4% of patients, osteoarthritis in 50%, or bursitis in 50%. Axial pain was reported in 64% of patients due to osteoarthritis or spinal stenosis. Fifty percent of patients had a history of long bone pain. Fifty percent had previous fracture(s). A total of 28.6% of patients had psoriatic arthritis, of which 1 patient had spondyloarthropathy, and 4 patients also had enthesitis. Conclusion Patients with HPP can present to rheumatology with musculoskeletal pain, and if a persistently low ALP is confirmed, this may reduce the diagnostic delay of this rare disease. Similar to other rheumatologic patients, musculoskeletal pain in HPP was noted in peripheral joints and in the spine with almost a third of patients having psoriatic arthritis. Pain was also noted in the long bones, a feature consistent with metabolic bone disease. The diagnosis of HPP was also more likely in those patients with a personal or family history of dental disease or arthritis.

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“…An accumulation of PPi in HPP favours calcium pyrophosphate crystal deposition in and around joints leading to CPPD [1]. CPPD is more common in women with HPP [5,11].…”

Section: Musculoskeletal Presentations Of Hppmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%