Characteristics of Hypophosphatasia in Adult Patients in Rheumatology

(2-4 weeks after the 1st measurement)

Laboratory testing investigating features that support the diagnosis of hypophosphatasia or exclude it by indicating secondary hypophosphatasemia for other reasons (including parameters such as serum calcium, inorganic serum phosphate, vitamin B6, vitamin B12, folic acid, bone-specific alkaline phosphatase, vitamin D3, and more).

Checklist including numerous symptoms and clinical findings regarding the musculoskeletal system and non-musculoskeletal body parts

Quality of life questionnaire

The short physical performance battery is a group of measures that combines the results of the gait speed, chair stand and balance tests. It has been used as a predictive tool for possible disability and can aid in the monitoring of function in older or disease-affected people. The scores range from 0 (worst performance) to 12 (best performance). The SPPB has been shown to have predictive validity showing a gradient of risk for mortality, nursing home admission, and disability.

A full rheumatological examination will be performed.

(including body temperature, blood pressure, heart rate)

A body composition measurement by BIA (Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]) will be performed.

Investigation of mutations regarding the alkaline phosphatase gene