Endocrine Abstracts

A 67-year-old female patient with a more than five-year history of symptomatic treatment of bilateral hip joint arthrosis, lumbar spine spondiloarthrosis as well as progressive hearing impairmen and dizziness was referrred by orthopedic surgeon to the endocrinology ward for diagnostic workup of metabolic bone disease. From the family history it was known that her mother had similar complains by the age of 60, which rapidly led to disability to walk, but she was never properly ...

Acute intermittent porphyria (AIP) is an uncommon monogenic autosomal dominant disorder with a defect in the haem biosynthesis pathway at the level of the enzyme porphobilinogen deaminase. The disease has low penetrance; most patients could stay asymptomatic throughout life. Clinical manifestation depends on various precipitants, which increase hepatic haem production and cytochrome activity. We report a case of a female patient who had regular moderate-to-severe cyclic AIP at...