Name: ORPILLA, CHYRA VON LOUISE M.

Date: MAY 08, 2019

Student No. 15-1-95353

A right upper quadrant abdominal ultrasound examination of a man in his mid-40s was
requested as part of an annual checkup to evaluate the condition of his liver, based on the diagnosis of
Wilson disease that had been made a decade earlier. The patient stated that his diagnosis with Wilson
disease began as an incidental finding during surgery to remove his gallbladder. A series of tests
confirmed the initial diagnosis, and chelation treatment was started immediately. A combination of
medications was given for approximately 3.5 years to complete the chelation process and to detoxify his
body of excess copper. Once acceptable levels of copper were reached, he began a regimen of 50 mg of
zinc orally three times a day, which adequately controlled the absorption and excretion of copper. The
patient said that the side effects of the medication cause nausea and general abdominal discomfort but
that he remained compliant and had no other complications resulting from the disease. In fact, he
remained optimistic for future improvements in treatment.
A series of gray-scale images of the liver were obtained in the longitudinal and transverse
scanning planes with a Phillips iU22 scanning system and a broadband, curved array C5-2 transducer.
The patient’s liver presented as fatty and difficult to assess with sonography; the interpreting physician
stated that the liver demonstrated increased echogenicity without evidence of a focal mass, which was
consistent with hepatic parenchymal disease.

Figure 1. (A) in the patient with Wilson disease, showing diffuse, nonspecific increased echogenicity with no evidence of any discrete
masses and diminished tissue penetration causing poor visualization of the deeper tissue segments.

Figure 2. Transverse image of the left lobe of the liver in the patient with Figure 4. Transverse image of the right lobe of the liver in the patient with
Wilson disease showing similar echogenicity to Figure 1B. Wilson disease showing a similar echogenicity to Figure 3.

Figure 3. Longitudinal image of the right lobe of the liver in the patient with Wilson
disease, showing the same echogenicity and tissue characteristics of the left lobe.
 Figure 5. (A) In the patient with Wilson disease, showing diffuse,
nonspecific increased echogenicity and diminished tissue penetration
causing poor visualization of the right kidney.
Discussion
Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive
metabolic disorder of the liver in which the organ cannot eliminate excess copper. Copper, in minute
amounts, is an essential element needed for many critical functions, including “oxidative metabolism,
neurotransmitter synthesis, free radical detoxification, iron uptake, and connective tissue maturation in
cells.” Typically, more copper than necessary is ingested; it is stored in the liver until needed, and excess
amounts are excreted through the biliary system to maintain a healthy balance. In Wilson disease, the
liver is unable to rid itself of excess copper, which results in organ dysfunction and, if not treated, liver
failure. As the disease progresses, copper begins accumulating in other areas of the body, including the
brain, eyes, kidneys, and heart, with subsequent impairment of the affected organs.
The hepatocytes are the functional cells of the liver and are responsible for creating
ceruloplasmin, which is an enzyme with six copper atoms; its function is to carry the majority of plasma
copper throughout the body via the circulatory system. In addition, the hepatocytes transfer excess
copper into the biliary system for eventual elimination in the feces. Wilson disease involves a mutation
of the ATP7B gene, which interferes with the attachment of copper to ceruloplasmin and inhibits the
transfer of excess copper into the bile. Thus, a toxic level of copper slowly builds up in the liver,
resulting in hepatocellular damage, liver disease, and eventual passage of copper into the bloodstream,
which results in toxic accumulation of this heavy metal in other organs. Hepatocellular damage can
result in hepatomegaly, acute liver failure, hepatitis, chronic active hepatitis, and cirrhosis. 
The basal ganglia, cerebellum, and brain stem are common areas of the brain affected by copper
accumulation. In addition, “atrophy of the cortex and the cerebral white matter” has been noted in
numerous studies. Neurologic symptoms can vary widely but often present as “tremor, incoordination,
dystonia, rigidity, difficulty with fine motor movements, and dysarthria.” Common psychiatric
disturbances “range from depression, including suicide attempts, to temper tantrums, delusions, sexual
exhibitionism, hyperkinetic behavior, and paranoia.” Another clinical sign of Wilson disease is the
formation of Kayser-Fleischer rings in the eyes, which are deposits of copper around the cornea of the
eye. These rings may appear as red, bright green, blue, yellow, or brown. No significant clinical
problems are associated with the development of these rings, and they tend to disappear once treatment
of the disease is initiated.
The diagnosis of Wilson disease is made difficult by the wide range of nonspecific clinical
symptoms exhibited by patients and the great variability in the age of affected individuals. It is possible
for patients to be asymptomatic and the disease not present until later in life. The onset of the symptoms
associated with this disease more typically occurs in adolescence and young adulthood, since it takes
time for enough copper to accumulate and reach levels high enough to interfere with organ function.
However, patients as young as 3 to as old as 72 have been newly diagnosed with this disease. The
severity of symptoms is directly related to the amount of copper accumulation in the body. Because of
the difficulty in diagnosing Wilson disease, it can take up to two years from the time that clinical
symptoms appear to treatment. Advanced cases of this disease in the brain can leave the patient
bedridden and unable to care for oneself. In addition, severe cases of this disease in the liver can be fatal

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unless the patient receives a liver transplant. It is imperative to begin treatment immediately upon
diagnosis, since early detection and treatment can reverse symptoms and prevent life-threatening
damage to the liver and brain.
Diagnosis of Wilson disease is based on numerous clinical findings, including evidence of liver
disease, neurologic and/or psychiatric symptoms, the presence of Kayser-Fleischer rings, decreased
levels of serum ceruloplasmin, and, in advanced cases, elevated levels of urinary copper excretion.
Computed tomography, magnetic resonance imaging, and sonography are the preferred imaging
modalities used to help in the diagnosis of this disease. Depending on the stage of the disease,
sonographic examination of the abdomen usually reveals hepatomegaly and/or signs of liver disease,
including evidence of hepatitis, fibrosis, fatty infiltration, and cirrhosis. Since these signs of liver disease
are nonspecific in nature, a diagnosis of Wilson disease is not rendered on the basis of sonographic
appearance of the liver; other diagnostic procedures are usually performed. Splenomegaly is also
generally noted. However, there are documented cases of patients diagnosed with Wilson disease in
which the liver appeared normal during sonographic examination. Sonography and magnetic resonance
imaging are also used to image the structures of the brain most often affected, especially the basal
ganglia. Transcranial sonography demonstrates increased echogenicity within structures related to the
basal ganglia. Although there are many clinical signs and symptoms associated with Wilson disease,
none of these are diagnostic in and of themselves; it usually takes a combination of these manifestations
to render an accurate diagnosis. The gold standard for diagnosis is a liver biopsy that demonstrates
elevated copper content.
Once diagnosed with Wilson disease, the patient must carefully follow a lifetime regimen of
drug treatment, modifications in diet, and other efforts to limit exposure to copper. Chelation therapy, or
detoxification of heavy metals, is the initial treatment to rid the body of free copper found in the
bloodstream and not covalently bound to ceruloplasmin. The removal of excess copper is accomplished
by a combination of oral medications while the patient’s levels of serum copper are closely monitored.
Penicillamine was the first oral medication used in chelation therapy, but its side effects, especially on
patients with neurologic symptoms, were excessive. Trientine was the second copper-chelating agent
used, but it also had significant adverse side effects on patients, causing significant neurologic
symptoms. Today zinc is the preferred drug for treating Wilson disease. Unlike penicillamine and
trientine, which bond to free copper in the body for urinary excretion, zinc inhibits the absorption of
copper in the intestines. Once a normal copper level is attained, zinc is considered to be adequate
therapy for maintaining a healthy level of copper absorption and excretion. Dietary restrictions include
ensuring that not more than 1 mg of copper is ingested a day. It is advised to avoid copper supplements
and foods high in copper content, such as shellfish, nuts, chocolate, whole wheat, and organ meats. In
addition, steps need to be taken to reduce copper consumption in drinking water. These include using
only distilled water for drinking and cooking and installing copper removal systems in drinking water
lines.

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Conclusion
Although Wilson disease is considered to be rare, knowing the signs and the symptoms of this
condition is applicable to sonologists and sonographers. As better diagnostic tools must be available and
people should have awareness of this disease as it increases every time, sonographers should also expect
to see more instances of this life-threatening illness. Whether it is diagnostic imaging of the affected
organs, aiding in a liver biopsy, or conducting follow-up studies, sonography can play a significant role
in helping to alleviate the devastating effects of this uncommon condition. Prevention of this includes
having knowledge of the possible causes that may result in Wilson disease. The treatment of zinc orally
is quiet ineffective so they must include activated charcoal and laxatives or the chelating agents like
dimercaprol drug to absorb and help excrete the copper out of body.

Reference:

Mills, B., Baker, A. L., & Whitney, E. C. (2014). A Case Study on Wilson Disease. Journal of
Diagnostic Medical Sonography,30(1), 30-33. doi:10.1177/8756479313517765