Wilson-Konovalov disease: symptoms

Symptoms of Wilson-Konovalov's disease are characterized by a variety that is caused by the damaging effect of copper on many tissues. The primary lesion of an organ depends on the age. At children it basically a liver (hepatic forms). In the future, begin to prevail neurological symptoms and mental disorders (neuropsychiatric forms). If the disease manifests itself after 20 years, then patients usually have neurological symptoms. Perhaps a combination of symptoms of both forms. The majority of patients aged 5 to 30 years have already expressed clinical manifestations of the disease or a diagnosis.

Liver forms

Fulminant hepatitis is characterized by progressive jaundice, ascites, liver and kidney failure and usually develops in children or young people. Necrosis of the hepatic cells is mainly associated with the accumulation of copper. Almost all patients develop hepatitis against cirrhosis. A sudden massive ingress of copper from dead hepatocytes can cause acute intravascular hemolysis. Hemolysis of this type is described in sheep during copper poisoning, as well as in people with accidental copper poisoning.

The Kaiser-Fleischer ring may be absent. The level of copper in urine and serum is very high. The level of ceruloplasmin in the serum is usually low. However, it can be normal and even elevated, as ceruloplasmin is an acute phase reagent, the concentration of which increases with active liver disease. The activity of serum transaminases and alkaline phosphatase is significantly lower than with fulminant hepatitis. The low alkaline phosphatase / bilirubin ratio, although not diagnostic for fulminant hepatitis in Wilson's disease, can nevertheless suggest its potential.

Chronic hepatitis. Wilson's disease can be manifested by a picture of chronic hepatitis: jaundice, high activity of transaminases and hypergammaglobulinemia. The age of the patients at the time these symptoms appear is 10-30 years. After about 2-5 years, neurologic symptoms appear. The picture of the disease can largely resemble other forms of chronic hepatitis, which underscores the need to exclude Wilson's disease in all patients with chronic hepatitis.

Cirrhosis. Latent disease occurring at the stage of liver cirrhosis can manifest as vascular asterisks, splenomegaly, ascites, portal hypertension. Neurological symptoms may be absent. In some patients, cirrhosis is compensated. To diagnose it, liver biopsy may be required, with the possibility, with a quantitative determination of the copper content in the biopsy.

All young patients with chronic liver diseases who have mental disorders (eg, blurred speech, early development of ascites or hemolysis), especially when referring to cirrhosis in close relatives, should exclude Wilson's disease.

Hepatocellular carcinoma in Wilson's disease is very rare; while, perhaps, copper plays a protective role.

Neuropsychiatric forms

Depending on the prevailing symptoms, Parkinsonian, pseudosclerotic, dystonic (dyskinetic) and trochaic forms are distinguished (listed in order of decreasing frequency). Neurological symptoms can appear acutely and rapidly progress. Early symptoms include flexor-extensor tremor of the hands, spasms of the facial musculature, difficulty in writing, blurry speech. Uneven rigidity of the limbs is revealed. The intellect is usually preserved, although 61% of patients experience slow progressive personality disorder.

Neurological disorders often have a chronic course. They begin at a young age with a large-scale tremor, reminiscent of the wings of the wing, which increases with arbitrary movements. Symptoms and symptoms of pyramidal tract failure are absent. The face is amemic. In patients with severe dystonic form, the prognosis is comparatively worse.

Electroencephalography reveals generalized nonspecific changes, which can also be observed in clinically healthy siblings of the patient.

Renal damage

The defeat of the renal tubules occurs as a result of the deposition of copper in their proximal areas and is manifested by aminoaciduria, glucosuria, phosphaturium, uricosuria and inability to isolate para-aminopyrupate.

Often there is a renal tubular acidosis, which can lead to the formation of stones.

Other changes

Occasionally, as a result of the deposition of copper, the nail lunettes become blue. There are changes in the osteoarticular system: demineralization of the bones, early osteoarthritis, subarticular cysts and fragmentation of the periarticular bone tissue. Often there are changes in the spine, due to the deposition of calcium pyrophosphate dihydrate. Hemolysis promotes the formation of stones in the gallbladder. As a result of the deposition of copper, hypoparathyroidism develops. An acute rhabdomyolysis associated with a high level of copper in skeletal muscles is described.

In later stages of the disease, copper is deposited along the edge of the cornea in the form of a golden or greenish-gold Kaiser-Fleischer ring, identified by a slit lamp. It is usually detected in patients with neurological symptoms, and may be absent in young patients with acute onset of the disease.

A similar ring is sometimes found in prolonged cholestasis and in cryptogenic cirrhosis of the liver.

Occasionally, in the posterior layer of the lens capsule, grayish-brown cataracts resembling "sunflower" may appear, similar to those in the case of foreign bodies of the lens containing copper.

Without a timely begun, carried out for life and continuously treatment, the disease leads to death before the age of thirty.