Inherited Diseases: Devastating Defect

The technical name of the disorder is hepatolenticular degeneration, a mouthful that has moved physicians to call it Wilson's disease, after the doctor who first described it. But by any name it is still one of the most mysterious and devastating defects in the body's complex chemistry. It can be inherited from outwardly healthy parents and involves the metabolism of minute amounts of copper. As recently as 1960, medical textbooks stated: "The course of the disease is inexorably downhill if untreated." Most baffling is the fact that the inherited defect may either produce severe illness within the first year of life, or lie dormant like a slowly ticking time bomb for as long as 40 years. In the A.M.A. Journal last week, two New York City doctors reported that they have developed a way to detect the defect before any illness has developed, when diet and drug treatment have the best chance to postpone, if not to prevent, its usual deadly sequence.

Danger Signal. Root of the trouble is a recessive gene. If only one parent has this defective gene, the child will not develop the disease, though he may pass on the gene. But if both parents have it, an average of one child out of four will have a deficiency of ceruloplasmin—a little-understood blue component of the blood, in which eight atoms of copper are bound into a large protein molecule. A deficiency of ceruloplasmin leads to a piling up of copper in such sensitive organs as the liver and brain.

The first visible sign that the time bomb has been triggered, whether at four or 40. may be jaundice. But more threatening is the brain damage: tremor, loss of control over physical movements, and personality changes. In young victims mental retardation is obvious. In adolescents and adults the effects of brain dam age are often mistaken for a variety of mental illnesses, including schizophrenia.

Only recently have doctors been able to slow down Wilson's disease with drugs to leach copper out of the body, and a low-copper diet (no liver, mushrooms, nuts or oysters). How much better it would be, say Drs. Irmin Sternlieb and I. Herbert Scheinberg of Albert Einstein College of Medicine, to spot the inherited defect before illness has time to develop.

Brother & Sister. To do this, they have perfected the use of a simplified, 50-cent test* to be given to any suspected cases and all relatives of known victims. It takes only one drop of blood. Anybody with a normal ceruloplasmin level can forget about Wilson's disease. But anybody with an abnormally low level, the Bronx doctors say, should have a further test for copper in the liver. If this registers high, the patient is assumed to have the chemical defect and is promptly put on drugs and diet in the hope of preventing the development of full-blown disease.

Though it will take many years to determine whether the disease can be completely prevented, Drs. Sternlieb and Scheinberg have encouraging evidence from several patients. One boy from a Wilson's disease family was diagnosed as having the defect when he was only ten months old. He has been treated for eight years and is still well; his older sister, whose case was not diagnosed in time, became severely ill by age twelve.