SueHoney

Lucille Palmeiro, a 38 year old Caucasian female, presented to the Emergency Room of Princeton-Plainsboro Hospital, after having a respiratory arrest, as a sequale of pulmonary embolism. The pulmonary embolism resulted from a deep vein thrombosis (DVT)/ blood clot originating from her calf.
Blood alcohol of 0.12 early in the morning (? alcoholic).
History of auditory hallucination and paranoid ideation (? schizophrenia)
Ultrasound scanning showed a 5.8 solid mass in her liver (cancerous), which was then surgically resected. Further assessment revealed Kaiser-Fleischer rings, copper-colored circles around the corneas, confirming the diagnosis of Wilson’s Disease.

History
Presenting Hx: Respiratory arrest due to pulmonary embolism, originating from DVT in the calf.
Tremor.
Hemoptysis/ coughing up blood (Blood clotting problem?)
Past Hx: Hx of repeated auditory hallucinations and paranoid ideations.
Self-harming behaviour, through cutting
Missed appointment with ophthalmologist (cataracts as complication from Wilson’s Disease?)
Family Hx: None disclosed.

Examination/ Investigation
Clotting studies: Normal except for prolonged PT time  Vitamin K deficiency (poor diet?)
Ultrasound of liver: Solid mass/ cancer of 5.8cm and a small degree of cirrhosis/ scarring
Presence of Kayser-Fleischer rings around corneas upon slit-lamp examination (and ceruloplasmin levels of less than 20 mg/dL in a patient with neurologic signs or symptoms suggest the diagnosis of Wilson disease)

Follow up
Pharmacologic treatment with chelating agents to bind excess copper (chelating agents and medications that block copper absorption from the GI tract are the mainstay therapy for Wilson’s disease).
Surgical resection of tumour in the liver, followed by chemotherapy (through infusion).
* Physical examination, 24-hour urinary copper excretion assay, CBC count, urinalysis, serum free copper measurement, and renal and liver function tests on a weekly basis for the first 4-6 weeks following initiation of chelation therapy. Monitor efficacy of treatment.

Note on Wilson’s disease
“Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The condition is characterized by excessive deposition of copper in the liver, brain, and other tissues. The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. The genetic defect, localized to chromosome arm 13q, has been shown to affect the copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B) in the liver. Patients with Wilson disease usually present with liver disease during the first decade of life or with neuropsychiatric illness during the third decade. The diagnosis is confirmed by measurement of serum ceruloplasmin, urinary copper excretion, and hepatic copper content, as well as the detection of Kayser-Fleischer rings.” (eMedicine article by Rahil Shah, MD)

Sources:
1.http://www.emedicine.com/med/topic2413.htm - Wilson Disease by Rahil Shah, MD & Michael H. Piper, MD
2.Twiztv.com