Transient polyarthritis associated with familial hyperbetalipoproteinaemia

Forty-one heterozygous patients with familial hyperbetalipoproteinaemia have been studied. Twenty-two of these patients have been observed for four years'. Transient flitting inflammatory joint symptoms were noted in thirteen patients of this group. In six patients clinical, biochemical, radiological and radio-isotope studies have been carried out during the acute episode. These investigations suggest that this syndrome is due to acute inflammatory periarthritis and peritendinitis. Radio-active xenon clearance is not prolonged as occurs in inflammatory synovitis although there is elevation of the ratio-active technetium uptake over the affected joints suggesting that the blood flow to the affected area is increased. This is the largest group of patients with this complication reported to date and the recognition of this may prove to be an important aspect of case finding in this disorder. The treatment of hyperlipidaemia at an early stage may well contribute to a reduction in the morbidity and mortality from vascular disease. No further elucidation of the pathogenesis of the arthropathy has been made but a possible relationship between undue exercise and the onset of joint symptoms was again observed.