Complaints & connections · borters.ch
Degeneratio hepatolenticularis
The body cannot excrete copper — untreated it destroys liver and brain, recognised early life expectancy stays close to normal.
Also known as: Copper storage disease · hepatolenticular degeneration · ATP7B variant · Kayser-Fleischer ring
Open in the tool — with search and all the links →This compilation is for information and replaces neither medical diagnosis nor treatment. If you have symptoms, see a doctor.
A rare inherited disorder in which the body can no longer excrete copper properly. A transport protein of the liver — ATP7B — does not work, so copper accumulates first in the liver and later in the brain, the eyes and other organs. About one in 30,000 people is affected; inheritance is autosomal recessive: both parents pass on one predisposition each but are usually healthy themselves — which is why there is often no clue in the family. The disease typically shows between the ages of 5 and 45 and has three very different faces. In younger people the liver usually dominates: unexplained raised liver values, a fatty liver, inflammation up to cirrhosis, rarely acute liver failure. Later the neurological picture often prevails, with tremor, slurred speech, swallowing difficulty, clumsy fine motor control and involuntary movements. And thirdly there is the psychiatric side: change of character, mood swings, a drop in performance — which is unfortunately often filed under something else for years. A characteristic sign is the Kayser-Fleischer ring, a copper-coloured deposit at the edge of the cornea that an eye doctor sees at the slit lamp. In the laboratory ceruloplasmin is typically low and copper excretion in the urine raised; copper in the blood can be deceptively normal. The diagnosis is secured by examining the ATP7B gene. Why all this matters so much: untreated, the disease progresses to organ failure — recognised early and treated consistently, life expectancy is close to normal. Treatment is lifelong, with drugs that bind and remove copper, or with zinc, which slows uptake in the gut. And because siblings are affected with a probability of 25 percent, family testing is an essential part of it.
Raised liver values in young people without alcohol, drugs or virus are the commonest missed opportunity. A simple ceruloplasmin blood test gives the first clue.
The Kayser-Fleischer ring is barely visible to the naked eye but clear at the slit lamp — a valuable, painless piece of the puzzle.
The medicines work lifelong and only while they are taken. Stopping on one’s own can cause serious deterioration — changes belong in medical hands.
Organ meats such as liver, shellfish, nuts, cocoa and mushrooms are high in copper. Diet alone is not enough as treatment but can sensibly complement it — agree details medically.
Siblings are affected with a 25 percent probability — often entirely without symptoms. Precisely then early treatment is most effective.
The liver already carries a load. Alcohol and unnecessary liver-burdening agents add to it — have medicines and supplements reviewed.
The drugs bind copper and carry it away (penicillamine, trientine) or prevent uptake in the gut (zinc). This is lifelong treatment: if it is stopped, the copper builds up again, and acute liver failure is possible. Liver values improve over months, the neurological signs over one to three years — and in some they worsen in the first weeks before things improve.
About one in thirty thousand people is affected. The liver form usually shows between five and twenty years, the neurological one between fifteen and thirty. Caeruloplasmin is low in more than ninety in a hundred, and copper excretion in twenty-four-hour urine is raised. The Kayser-Fleischer ring is found in almost everyone with neurological signs and in only about half with purely liver involvement — it is looked for with a slit lamp.
Raised values in a young person without alcohol, without excess weight, without a virus. The picture ranges from a silent fatty liver to acute hepatitis — and it often comes before all other signs.
A coarse tremor, unclear speech, increased salivation, handwriting that gets smaller and less legible, clumsiness of the hands. Onset usually between fifteen and thirty.
A drop in performance at school, irritability, depression, unaccustomed impulsiveness — in young people that is easily put down to their age. Together with abnormal liver values it is a signal.
A copper ring at the edge of the cornea, visible only at the slit lamp. In the neurological forms it is almost always there, in the purely liver forms often not — its absence rules nothing out.
In blood, copper can be deceptively normal or even low — decisive are ceruloplasmin and urinary copper excretion.
Unexplained raised liver values in young people are an important reason to think of Wilson’s disease.
Can be raised with liver damage; helps distinguish other storage disorders such as haemochromatosis.
The store lasts only a few weeks and empties quickly with alcohol and poor food. A lack hits nerves and brain first — which is why it is corrected here early and without hesitating.
The liver is the store, and alcohol disturbs both the uptake and the storing. A lack shows in the blood count as red cells that are too large.
With advanced liver disease a lack is common and contributes to loss of taste, poor wound healing and states of confusion.
The old rule of restricting protein in liver disease no longer holds. Too little of it breaks muscle down, and muscle is an important part of the reserve in this illness.
Here wanted for once: zinc blocks copper uptake in the gut and is a recognised maintenance treatment in Wilson’s disease. The dose is set by the treating team, not by the packet.
The one supplement that is out of the question here. Multivitamins containing copper therefore belong checked — it is rarely on the front of the packet.
In pregnancy clearly established against neural-tube defects, otherwise mainly with deficiency. Can mask a B12 deficiency — watch both.
The condition often shows first psychiatrically or neurologically — mood swings, tremor, changed handwriting in young people. Thyroid and liver values belong to the work-up; the decisive values, though, are caeruloplasmin and copper in the urine.
In women repeated miscarriages and missed periods occasionally lead to the diagnosis — the copper damages liver and hormone axes at once. On treatment pregnancies are possible; they belong accompanied.
Liver, shellfish, nuts, cocoa and mushrooms are high in copper. In the first treatment phase intake is limited; later diet matters less than the medication. Copper pipes in the house can add to it.
Here wanted for once: zinc blocks copper uptake in the gut and is a recognised maintenance treatment in Wilson’s disease. The dose is set by the treating team.