Adult progeria (Werner's syndrome)

History: A 48-year-old man was referred with progressive claudication and n octurnal pain at rest in the right foot. During the last few years exercise -induced pain, ulcerations and necroses had developed in both legs without any evidence of relevant macroangiopathies. The patient showed marked morph ological changes. He had bilateral cataracts since aged 35 years. At 40 yea rs he had undergone a transurethral resection of a bladder carcinoma. One o f his brothers showed similar morphological changes, but they were absent i n his parents and three siblings. Investigations: Radiology of the rig ht foot revealed extensive para-osseou s soft-tissue calcifications. Direct right femoral angiography demonstrated distal occlusions of the anterior and posterior tibial arteries as well as subtotal occlusion of the fibular artery. Routine laboratory tests were no rmal, as were all measured antibody titres. Treatment and course: The perip heral vascular disease, stage IV, of the right leg were presumably caused b y adult progeria (Werner's syndrome). Percutaneous transluminal angioplasty (PTAP) of the distal fibular and, later, of the posterior tibial artery wa s performed, and prostacyclins, antibiotics and platetet-aggregation inhibi tors were administered. Although the PTAP was technically successful, the s tate of the right foot remained critical, due to the existing microangiopat hy and the impaired proliferation and healing capacity of the tissues as pa rt of the adult progeria. Conclusions: The diagnosis of adult progeria is usually made because of the patients' characteristic morphology and typical concomitant diseases. The average age of patients at diagnosis is 37 years. The syndrome is caused by a helicase defect. This enzyme group unwinds double-helix RNA and DNA. Bec ause the syndrome is rare and gene analysis is complex, it is unlikely that s commercial screening test will become available.