Early Diagnosis is Important in Wilson's Disease

Early Diagnosis is Important in Wilson's Disease
Early Diagnosis is Important in Wilson's Disease

Regarding Wilson's disease, which is a rare disease, Pediatric Gastroenterology Hepatology and Nutrition Specialist Prof. Dr. Yaşar Doğan emphasized the importance of early diagnosis. Doğan said, “It is estimated that there are approximately 2.500 Wilson's patients in our country. However, it should not be forgotten that the number of patients may be higher in societies where consanguineous marriages are high, such as our country. Wilson's disease is an inherited disease primarily associated with abnormal copper metabolism that leads to excessive copper storage in the liver and brain, and early diagnosis is of vital importance. Therefore, early diagnosis; It is an important process in protecting the liver and preventing the transplantation process. Especially in Wilson patients with central nervous system involvement, early diagnosis is again a very important factor in preventing irreversible brain damage.” He said and added: “With the early diagnosis of Wilson's disease and the early initiation of treatments to remove excess copper from the body, patients can lead a near normal life.

Defining Wilson's disease as an inherited metabolic disease characterized by abnormal accumulation of copper, Pediatric Gastroenterology Hepatology and Nutrition Specialist Prof. Dr. Yaşar Doğan made important statements about this disease.

Although the symptoms of Wilson's disease usually vary depending on the age group, Prof. Dr. Yaşar Doğan said, “Clinic symptoms may vary depending on the organ or system where copper accumulation is seen. If copper accumulation is in the liver, these symptoms may be elevated in liver enzymes or enlarged liver alone, or may progress from an acute hepatitis (liver inflammation) to a chronic hepatitis picture or to a stage where liver failure can be seen. Clinical symptoms in Wilson patients with disease involvement, namely copper accumulation in the central system; There may be movement disorders, speech disorders, psychoses (severe impairment of thought and sensation), mood changes, or personality changes, which may appear as excessive (hyperkinetic) or slowness (hypokinetic) movement. Decreased school achievement may be the first cognitive symptom that attracts the attention of most patients' relatives. These symptoms may vary from patient to patient. Apart from this, symptoms specific to each system can be observed in patients. Bone findings can be seen as cardiac involvement, hemolytic anemia (reduction of red blood cells) or acute hemolytic crisis. If there is kidney involvement, it may present with many clinical symptoms that may cause kidney dysfunction. he said.

Stating that it is possible to diagnose Wilson's disease after a detailed history and physical examination, it is possible to perform the necessary laboratory tests. Dr. Yaşar Doğan, “These laboratory tests; blood ceruloplasmin level, serum copper level, 24-hour urine copper excretion level, dry liver copper level after liver biopsy if necessary, histological examination of the biopsy, presence of kayser-fleischer rings in the eye and signs of cataract, which we call sunflower cataract, during the examination. A diagnosis can be made easily by combining a few of these findings.” said.


Noting that early diagnosis of Wilson's disease is very important, Prof. Dr. Yaşar Doğan continued as follows: “Wilson's disease is a hereditary disease primarily associated with abnormal copper metabolism that causes excessive copper storage in the liver and brain, and early diagnosis is of vital importance. can develop. Therefore, early diagnosis; It is an important process in protecting the liver and preventing the transplantation process.”

Especially in Wilson patients with central nervous system involvement, if the diagnosis is delayed, the symptoms and organ damage seen in the clinical process may reach an irreversible stage. If the clinical symptoms in the central nervous system are evident and the process is prolonged, even if treatment is started, the central nervous system findings may be permanent in Wilson's disease, since organ damage and clinical findings will be irreversible. Early diagnosis is one of the vital issues.”

Stating that, in addition to organ dysfunctions, growth-developmental retardation may occur and growth will be affected in pediatric patients diagnosed in the late period. Dr. Yaşar Doğan said, “Therefore, deficiencies in the social life of the patient and negativities that affect the social life of the patient will occur due to the effect of growth and liver dysfunction. Early diagnosis of Wilson's disease in childhood; It will prevent both physical and organic injuries that may occur in the child, and it will prepare the ground for the occurrence of negative situations that may develop in the future.” made statements.


Drawing attention to the importance of continuity of treatment in Wilson's disease, Prof. Dr. Yaşar Doğan said, “If we stop the treatment at a certain point after the patient has recovered, the treatment should continue without interruption, since the clinical findings we have seen in the previous period will tend to recur, and we should definitely inform our patients that it is a lifelong treatment process.” he said.

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