patient with neuro-hepatic wilson disease- worsened on starting d-penicillamine. discussion on...

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

Case of Neuro-Hepatic Wilson’s DiseaseManagement Challenges

Dr. Azad Irani

Dr. Pettarusp Wadia

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.

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.

Video Feb 2009

MRI of the Brain

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

Family History

• Born of non-consanguineous marriage

• Has one sister – who subsequently tested positive for Wilsons

• She was asymptomatic

• She was put on Zinc

Issues at this point

• Has neuropsychiatric presentation with cirrhosis at the time of presentation??

• What drug to initiate therapy with

– Penicillamine

– Trientine

– Zinc

Management challenges continued

• Started on Penicillamine – initiated slowly

• But…..

– Worsened – marked dysphagia

– Gait worse

– Speech worsened

– Apathetic…….

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!!

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)

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

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.

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.

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

Oromotor exercises and facial massage.

Training in fine motor skills.

Improving cognitive functions.

Recreational therapy.

Relaxation therapy.

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

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…..

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…….

Video 3 years post Rx

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

Other issues – Diet and Wilson’s disease

• Word on Diet in Wilson’s disease

• PEG FEEDs and Wilson’s disease – any precautions

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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