Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillamine. Discussion on...
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Transcript of Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillamine. Discussion on...
![Page 1: Patient with neuro-hepatic Wilson disease- worsened on starting d-penicillamine. Discussion on management beyond drugs - Dr Pettarusp Wadia](https://reader031.fdocuments.in/reader031/viewer/2022030318/58ede70d1a28abbc5c8b4605/html5/thumbnails/1.jpg)
Presenter : Azad Irani
Moderator: Pettarusp Wadia
Panelists : AS Puri, Prashanth LK, Reena Javkar,
Sheetal Mhamunkar, SK Yachha
Case Discussion Patient with Neuro-hepatic Wilson disease –worsened on starting d-penicillamine Discussion on management beyond drugs
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Case of Neuro-Hepatic Wilson’s DiseaseManagement Challenges
Dr. Azad Irani
Dr. Pettarusp Wadia
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History• 2002: (13 yrs, 8th std)–
– Indigestion, reduced appetite and lost 10 kgs weight – treated symptomatically
• 2004 –(15 yrs, 10th std) –
– Parents noticed the use of abusive language, temper tantrums.
– She even tried to cut her hand with a knife.
• 2006 (17 yrs, 12th std),
– Some drooling of saliva.
– She used to remain aloof, had less interest in the surroundings, kept herself untidy, had slowing of ADL`s,
– some posturing of her hands
– Insisted on going abroad for further studies.
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History contd.
• 2007 - went to UK for hospitality management course.
– In September her mother found that her speech was unintelligible on the phone.
• April 2008
– came back to India
– severe drooling of saliva,
– significantly reduced verbal output
– Markedly slow ADL`s.
– Tremors in her upper limbs.
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Video Feb 2009
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MRI of the Brain
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Case JM Investigations
USG abdomen and Pelvis –
Coarse echotexture of liver with nodules -Cirrhosis.
Spleenomegaly with dilated spleenic veins
Slit Lamp: bilateral KF rings
Sr. Cerruloplasmin 1.9 mg/dl (low)
24 hour urinary copper 271.9 µgm/24 hrs
Prothrombin time – deranged
Esophageal varices noted
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Family History
• Born of non-consanguineous marriage
• Has one sister – who subsequently tested positive for Wilsons
• She was asymptomatic
• She was put on Zinc
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Issues at this point
• Has neuropsychiatric presentation with cirrhosis at the time of presentation??
• What drug to initiate therapy with
– Penicillamine
– Trientine
– Zinc
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Management challenges continued
• Started on Penicillamine – initiated slowly
• But…..
– Worsened – marked dysphagia
– Gait worse
– Speech worsened
– Apathetic…….
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Now what??
• Options related to Penicillamine
– Stop Penicillamine
• Move to Trientine
• Move to Zinc
– Continue Penicillamine in lower dose with slower escalations
– Continue Penicillamine in same dose with slower escalations
• Dysphagia is marked – losing weight
– Should we put in a PEG tube – has cirrhosis!!
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Management challenges…..
• Penicillamine continued in a marginally lower dose
• PEG tube was inserted
• Luckily for us – she stopped deteriorating
• At this stage
– Markedly akinetic rigid
– Arms had become rigid with a clenched fist (more on right side)
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Management Issues
• Drugs for symptomatic management
– Ldopa and carbidopa
– Anticholinergics – esp for dystonia and drooling
– Other agents
• Role of Botulinum toxin (BoNT)
– Esp clenched fist making hygiene difficult
• Role of Rehabilitation
– Speech therapy
– Physical and occupational therapy
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PHYSIOTHERAY IN
NEURO WILSON'S DISEASE
Physiotherapy plays an important role in reducing functional limitations and preventing / reducing complications of the disease while promoting activity participation and independence.
Physiotherapy is most beneficial when started early in the course of the disease.
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Improving or maintaining mobility through exercise:
A mobility and streching exercise programme
is given to prevent contractures of the rigid
muscles. Proper positioning is advised with the
use of splints like cock-up splint for hand and L
splint for ankle. Correct spine positioning is
important for prevention of Scoliosis or
Kyphosis.
Core muscle strengthening helps in improving
the posture.
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Maintaining independence in daily life:
Exercises to regularise the tone
Balance training
Teaching safe transfers
Gait training and use of mobility aids
Helping in safe and easy mobilty
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Oromotor exercises and facial massage.
Training in fine motor skills.
Improving cognitive functions.
Recreational therapy.
Relaxation therapy.
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Clinical course continued
• D penicillamine gradually stepped up to 6 tablets per day
• She improved symptomatically
• Symptomatic drugs, physiotherapy and speech therapy continued
• Received BoNT therapy twice
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Psychiatric symptoms return as she recovers
• As she started to speak
• Became irritable
• Started to argue with mother
• Insisted on having things her way only……
• What do we do
– Treat with Quitiapine/Clonzapine to reduce psychotic symptoms…..
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But the road to recovery is not easy……
• Gradually recovering even on behaviour aspects …….
– 2012- developed nephrotic range proteinuria
• Should we Stop Penicillamine
– Move to Trientine
– Stay with Zinc
Attempts to procure Trientine failed – started Zinc and Penicillamine tapered. The rate of recovery declined. But there was no worsening…….
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Video 3 years post Rx
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Current status
• Parkinsonism improved significantly
• She is mobile, goes for computer classes
• Was planning to restart a degree course
• Has significant adductor laryngeal dysphonia but improving over time….
• Has mild right upper limb dystonia
• Remains on Zinc……
• Urine proteins negative
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Other issues – Diet and Wilson’s disease
• Word on Diet in Wilson’s disease
• PEG FEEDs and Wilson’s disease – any precautions
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Thank you
Have a Nice Day !!!
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Neuropsychiatric features
• Movement Disorders
– Parkinsonism
– Dystonia
– Tremors
– Chorea
• Other Neurological
– Seizures
– Memory loss
• Behavioral changes– Depression
– Loss of emotional control
– Inability to focus on tasks
– Loss of inhibitions
– Insomnia
– Anxiety
– Psychotic behavior• Hallucinations
• Aggressive behavior
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