Warning Signs Of Wilson's Disease To Watch For

Wilson's disease is a genetic condition in which the body cannot remove excess copper, causing it to accumulate in the eyes, brain, liver, and other vital organs. Most cases of this disorder are diagnosed when patients are between five and thirty-five years old, and symptoms typically begin during the teenage years. Liver disease is usually the first symptom in patients with Wilson's disease, and neurological and psychiatric symptoms may develop later. To diagnose this condition, doctors can use blood and urine tests to measure the levels of copper in the body, and genetic tests may be performed to check for the specific mutations associated with this illness. A liver biopsy may be completed so the tissue sample can be checked for excess copper, and some patients may need to have an eye exam using a slit-lamp. Chelating agents, including penicillamine and trientine, are typically the first line of treatment for this condition. These medications enable the body to release excess copper through urination, and they must be taken for the patient's entire life. If severe liver damage has occurred as a result of the disease, a liver transplant may be needed. While Wilson's disease is a lifelong condition, early detection means the vast majority of patients lead normal lives.

The signs and symptoms outlined below are commonly seen in patients with Wilson's disease.

Spider Angiomas

Spider angiomas are generally a sign of liver disease, one of the main components of Wilson's disease. Also known as spider veins, spider angiomas are clusters of dilated blood vessels located very close to the skin's surface. The clusters form a web-like shape, and the vessels may be red, blue, or purple. When pressure is applied, the clusters disappear, and they will reappear after pressure is released. While spider veins may occur anywhere on the body, they typically form on the face, neck, and legs, and they may cause discomfort. Discomfort is most likely if the spider angiomas are present on the legs, and pain may become worse after standing for long periods. Individuals who have multiple spider angiomas should make an appointment with their primary care physician as soon as possible, especially if they also have yellowing skin or eyes, or feel fatigued, weak, or bloated. All of these symptoms could indicate possible liver problems.

Uncover more symptoms of Wilson's disease now.

Premature Osteoporosis

In some patients, Wilson's disease may cause problems with the bones and joints, including premature osteoporosis and arthritis. These problems may even occur in children with Wilson's disease, and they are considered complications of chronic liver disease. Osteoporosis is a condition in which the bones become weak due to decreased bone density, which can be detected through a bone density scan (a special type of x-ray). This condition increases the risk of fractures, and it may also cause chronic back pain. Treatment for osteoporosis typically involves the use of anti-resorptive and anabolic medications. Anti-resorptive therapies, including estrogen and bisphosphonates, preserve bone density by limiting bone resorption. Anabolic medicines such as full-length parathyroid hormone (PTH1-84) and strontium ranelate work to rebuild bone. Other treatments include denosumab and calcitonin. In addition to osteoporosis, some patients with Wilson's disease may develop outgrowths of bone on the large joints of the body; these are known as osteophytes.

Continue reading to learn more about the warning signs of Wilson's disease now.

Fatigue and Weakness

Fatigue and weakness are both common in patients with Wilson's disease, and they occur mainly because of liver involvement. Patients may feel so tired that they are unable to participate fully in work or school, and they may sometimes need to take days off from these. Along with fatigue and weakness, patients may notice they have less of an appetite than normal, and they may also experience abdominal pain. Patients with these symptoms may need help with daily tasks, and a doctor should be notified if fatigue worsens. Doctors can assess the severity of a patient's fatigue by taking a health history, and medications or lifestyle changes may be beneficial in reducing the symptoms for some patients.

Get the details on more Wilson's disease symptoms now.

Vision And Speech Impairment

Vision and speech impairment may be signs of neurological damage in patients with Wilson's disease, and these usually occur if the excess copper accumulates in the brain. Patients may exhibit these impairments in childhood, but they are most common in adult patients with Wilson's disease. Patients may have trouble with articulating words clearly, and they may struggle with swallowing. They may also develop an involuntary tremor and a lack of coordination, and these symptoms may become progressively worse. Visually, patients may have neurodegeneration and other structural changes to the retina, and they may exhibit delayed visual evoked potentials. These eye symptoms can be evaluated by an ophthalmologist. Vision and speech problems normally improve with medication for Wilson's disease.

Learn more about the warning signs of Wilson's disease to watch out for now.

Kayser-Fleischer Rings And Sunflower Cataracts

Kayser-Fleischer rings and sunflower cataracts are two of the major eye symptoms used to diagnose Wilson's disease. Kayser-Fleischer rings are golden-brown or greenish rings that form around the edges of the corneas. Five out of six patients who have liver symptoms associated with Wilson's disease will present with Kayser-Fleischer rings, and nine out of ten individuals who have neurological symptoms will have the rings. These rings are deposits of copper, and they can be easily seen by an eye specialist during a slit-lamp examination. Sunflower cataracts, also known as sunburst cataracts, are also caused by copper deposits on the lens of the eye. These cataracts have a greenish disc in the center and radial opacities that resemble spokes. Kayser-Fleischer rings and sunflower cataract can both be diagnosed by an ophthalmologist. While the rings may go away with the use of chelating agents, cataract removal may sometimes be recommended in order to prevent vision complications.