Progeria: Case Report with Long-term Studies of Serum Lipids

Abstract

A. S. (1970). Archives of Disease in Childhood, 45, 553. Progeria: case report with long-term studies of serum lipids. A girl with the typical features of progeria died at the age of 10 years from cardiac failure following repeated myocardial infarctions. Serial studies of the serum lipids were made from the age of 2 years 3 months. Variable hyperlipidaemia, increased f,-and pre-fl-ipoproteins, and impaired clearing of absorbed dietary fat were shown. A polyunsaturated fat diet, which was started at the age of 2 years 5 months and continued throughout the rest of her life, controlled the hyperlipidaemia and the clearing of fat became normal. Pre-,B-lipoprotein could still, however, be seen occasionally. The dietary regimen did not delay the development of atherosclerosis, the pathogenesis of which, in progeria, may be due to factors other than hyperlipidaemia.Progeria was first described by Hutchinson in 1886 and named by Hastings Gilford in 1897. The term means prematurely old. Individuals appear normal at birth and weight gain is usually satisfactory during the first year of life, but thereafter virtually ceases. Growth in height is retarded and rarely exceeds that of a normal 4-or 5-year-old. Intelligence is normal. The appearance has been likened to a 'plucked bird' or very old man because of baldness and lack of subcutaneous fat; the skin is atrophic and often shows brown pigmentation. The nails are atrophic or absent. The eyes are prominent and the nose beaked; the chin recessive and the maxilla hypoplastic. The chest is narrow and the abdomen protrudes. Clinical manifestations of osteoarthritis and arteriosclerosis may appear before the sixth year. The commonest cause of death is myocardial infarction and survival beyond the second decade is rare. The radiological features, which consist of hypoplastic facial bones, delay of cranial suture and fontanelle closure, thin short clavicles, coxa valgus, and progressive acro-osteolysis of the terminal phalanges have been recently reviewed by Margolin and Steinbach (1968), Ozonoff and Clemett (1967), and Macleod (1966.

Hutchinson-Gilford Progeria Syndrome: A Pathologic Study

“…Eight were above 270 mg=dL and, for the young ages, such values would normally be regarded as elevated but there was evidence of lability [32]. One girl considered to have high normal serum cholesterol at age 2 years 3 months was given a high polyunsaturated fat diet until she died at 10 years of age of myocardial infarction and congestive cardiac failure with no apparent e¡ect on atherogenesis [18]. In the many other instances, no mention was made of cholesterol levels and it is likely high values would have been mentioned.…”

“…The metabolic workup of these individuals is variable but no demonstrable and consistent abnormalities have been found. Some reports show insulin resistance, abnormal collagen formation, and increased metabolic rate [17,18]. Death is usually due to heart failure from cardiovascular disease or head injuries due to thinned cortical bones [19^21].…”

Laminopathies and Atherosclerosis

“…47,48 Furthermore, serum lipoproteins in HGPS are relatively normal, except for occasional reports of depressed HDL cholesterol. 38 Exposure to risk factors such as poor diet, smoking, or hypertension is an unlikely proatherogenic mechanism in HGPS. Similarly, the variable association with insulin resistance does not fully explain atherosclerosis in HGPS.…”

A Disturbance of Serum Lipids in Three Cases of Werner’s Syndrome

“…A paper concerning long-diet treatment of progeria appeared on the basis of the control of lipid uptake [8]. In this case, hypertriglycemia with elevated p-and pre-P-lipoprotein was reported.…”