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.
In this report retrospectively 14 patients that presented with musculoskeletal pain to general rheumatology clinic at St. George’s Hospital are analysed and are diagnosed subsequently with HPP.
Median diagnostic delay is 13 years. All patients have an ALP below reference range for age. Most common presentation is peripheral joint pain in 85.7% of patients. Axial pain is reported in 64% of patients due to osteoarthritis or spinal stenosis. Fifty percent of patients have a history of long bone pain. Fifty percent have previous fracture(s). A total of 28.6% of patients have psoriatic arthritis.
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 is noted in peripheral joints and in the spine with almost a third of patients having psoriatic arthritis. Pain is also noted in the long bones, a feature consistent with metabolic bone disease. The diagnosis of HPP is also more likely in those patients with a personal or family history of dental disease or arthritis. Read the full article here.