Diagnosis of Wilson's Disease
Diagnostic Test list for Wilson's Disease:
The list of medical tests
mentioned in various sources as
used in the diagnosis of Wilson's Disease
includes:
Wilson's Disease Diagnosis: Book Excerpts
Tests and diagnosis discussion for Wilson's Disease:
Wilson's disease is diagnosed through tests that measure the amount of
copper in the blood, urine, and liver. An eye exam would detect the
Kayser-Fleischer ring.
(Source: excerpt from Wilson's Disease: NIDDK)
Diagnostic Tests for Wilson's Disease: Online Medical Books
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Review excerpts from medical books online, free, without registration,
for more information about diagnostis of Wilson's Disease.
Chorea:
Differential Diagnosis
(In a Page: Signs and Symptoms)
Huntington's disease (chronic progressive
hereditary chorea)
–Autosomal dominant transmission
–Associated with psychiatric symptoms and
progressive dementia
–Caudate atrophy on neuroimaging studies
–Marker on chromosome 4
-
Sydenham's chorea
–Symptoms follow febrile illness (20–30%
of cases are associated with group A strep)
–Seen in rheumatic fever
–Peak ages: 5–13 years
–More common in females
Systemic lupus erythematosus
AIDS
Hyperthyroidism
-
Chorea gravidarum
–Develops in the first 4–5 months of
pregnancy
–Resolves following delivery
Drug-induced (e.g., levodopa, stimulants, anticonvulsants, antidepressants, neuroleptics, oral contraceptives)
Stroke
Neoplasm
-
Wilson's disease
–Autosomal recessive disorder
–Deficiency in copper metabolism
–Associated with hepatic dysfunction,
dystonia, dysarthria
Benign hereditary chorea
–Autosomal dominant
–Onset before age 5
–Symptoms are nonprogressive
-
Neuroacanthocytosis
–Etiology unknown
–Characterized by chorea and deformed
erythrocytes
DRPLA
–Most common in Japan
–Characterized by chorea, ataxia, epilepsy,
and dementia
Workup and Diagnosis
- History and physical examination
–Clinical diagnosis is sufficient for Sydenham's chorea
–Huntington's disease may present with psychiatric symptoms (e.g., depression) before other manifestations; onset of symptoms typically occurs in the fourth and fifth decades of life
–The appearance of Kayser-Fleischer rings in the cornea on slit-lamp exam is diagnostic for Wilson's disease
-
Neuroimaging (CT, MRI) to rule out mass lesions and Huntington's disease (cerebral/basal ganglion atrophy)
-
Genetic testing for Huntington's disease
-
Echocardiography to diagnose carditis
-
Throat culture or serology (ASO) for streptococcal infection
-
Low level of serum ceruloplasmin and elevated 24-hour urine copper in Wilson's disease
-
Thyroid function tests to rule out hyperthyroidism
-
ANA to rule out lupus
-
Neuroacanthocytosis: Acanthocytes appear on peripheral smear with clinical symptoms of chorea, dystonia, and tics
-
DRPLA: Imaging studies may reveal cerebral and cerebellar atrophy
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Chorea:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Toxins
–Neuroleptics, phenytoin, antiemetics, oral contraceptives, theophylline, L-dopa, stimulants, lithium, carbon monoxide, manganese
-
Sydenham chorea (in rheumatic fever)
–Migratory chorea, hypotonia, dysarthria,
emotional liability
–Usually 4 months after group A β-hemolytic Streptococcus infection
–Molecular mimicry between streptococcal and CNS antigens results in formation of cross-reactive antibodies that disrupt basal ganglia function
–Carditis is present in 80% of Sydenham chorea patients
-
Inherited choreas
–Benign familial chorea
–Juvenile Huntington chorea (usually presents
with rigidity)
–Familial paroxysmal choreoathetosis
-
Postinfectious: Mycoplasma, HSV, EBV, echovirus 25, varicella
-
Encephalitis: viral, mycoplasma, Lyme
-
Post-cardiac surgery
–“Post-pump chorea”
–Usually 2 weeks after cardiac surgery
- Syndrome or disease associated
–Wilson disease
–Hallervorden-Spatz (disorder of iron metabolism with degeneration of globus pallidus)
–Fahr disease: Encephalopathy and
progressive calcification of basal ganglia
–Lesch-Nyhan syndrome
–Ataxia-telangiectasia
-
Endocrine: Hyperthyroidism, pregnancy (chorea gravidarum)
-
Acquired brain disorders
–Multiple sclerosis, basal ganglia stroke, hypoxic ischemic encephalopathy, neoplasm
-
Abetalipoproteinemia
-
Glutaric aciduria type I
-
Neuroacanthocytosis
-
Systemic lupus erythematosus
-
Kernicterus
-
Antiphospholipid antibody syndrome
-
Mitochondrial encephalopathies
Workup and Diagnosis
-
History
–Fever, rash associated symptoms
–History of streptococcal infections, rheumatic fever, arthritis
–Birth history, family history, medications, ingestions
-
Physical exam
–Eye exam: Kayser-Fleischer rings (Wilson disease)
–Cardiac, joint, and skin exam (for rheumatic fever)
–Neurologic exam should include eye movement,
dysarthria, evaluation of tone, motor impersistence
-
Labs
–Electrolytes, glucose, calcium, magnesium, LFTs,
BUN/Cr, acetate, pyruvate
–TSH, parathyroid hormone, hCG
–CBC and blood smear (for acanthocytes)
–Throat culture, antistreptolysin O titer
–Ceruloplasmin (low in Wilson disease), amino acids
–Lyme titer
–Anti-nuclear, anti-cardiolipin, anti-phospholipid, anti
dsDNA antibodies
–Rheumatoid factor, lipid profile
–Huntington disease genetic testing
- Studies
–Cardiac evaluation with Echo, ECG
–LP useful in infectious or postinfectious cases
–Multiple sclerosis (find oligoclonal bands)
–Neuroimaging: CT or preferably MRI
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Wilson's disease:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Several tests suggest Wilson’s disease:
❑ Serum ceruloplasmin: less than 20 mg/dl
❑ Serum copper: less than 80 mcg/dl
❑ Urine copper: more than 100 mcg/24 hours (may be as high as 1,000 mcg)
❑ Liver biopsy: excessive copper deposits (250 mcg/g dry weight), tissue changes indicative of chronic active hepatitis, fatty liver, or cirrhosis.
CONFIRMING DIAGNOSIS Revelation of Kayser-Fleischer rings during slit-lamp ophthalmic examination confirms the diagnosis. However, rings are present only when the disease has progressed beyond the liver.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Chorea [Choreiform movements]:
History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))
Ask the patient and his family when they first noticed the choreiform movements. Do the movements disappear when the patient is asleep? Find out if anyone in the patient’s family exhibits the same type of movements, and ask about a family history of such diseases as Huntington’s disease. Also ask which medications the patient is taking. Obtain an occupational history, noting especially prolonged exposure to manganese or other metals. As you obtain the history, observe the patient for excessive restlessness and periodic facial grimaces that may interrupt his speech.
Perform a physical examination to evaluate the severity of the patient’s chorea. Ask him to stick out his tongue and keep it out. Typically, he’ll be unable to do this; instead, his tongue will dart in and out of his mouth. Observe the patient’s arms and legs separately for involuntary jerky movements. Ask him to extend and flex his hand as if halting traffic; the choreiform movements will be extremely evident in this position. Also, check for such related signs as athetosis, rigidity, or tremor.
To assess the patient for choreoathetotic gait, ask him to walk. He may change the position of his trunk and upper body parts with each step and jerk and tilt his head to one side. Because of superimposed involuntary movements and postures, the patient’s legs may move slowly and awkwardly. (An involuntary movement suspending his leg momentarily with each step may give a dancing quality to his gait.)
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Chorea:
History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
Ask the patient and his family when they first noticed the choreiform movements. Do the movements disappear when the patient is asleep? Find out if anyone in the patient’s family exhibits the same type of movements, and ask about a family history of such diseases as Huntington’s disease. Also ask which medications the patient is taking. Obtain an occupational history, noting especially prolonged exposure to manganese or other metals. As you obtain history information, observe the patient for excessive restlessness and periodic facial grimaces that may interrupt his speech.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
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