- Email: [email protected]
Diagnosing Wilson's Disease–United We Stand Divided We Fall: A Five-year Pathological Perspective at a North Indian Tertiary Referral Centre
JOURNAL OF CLINICAL AND EXPERIMENTAL HEPATOLOGY
CONFLICTS OF INTEREST The authors have none to declare.
histology confirmed/suggested WD in 86.4% cases. Copper histochemistry aided the diagnosis in 67.5% cases. The suggestion of the diagnosis in the absence of clinical/biochemical evidence was made in 27% cases. Follow up data was available in half and all responded to chelation therapy. Conclusion: WD is clinically, biochemically and histologically a heterogenous disease. The majority of hepatic cases are diagnosed by histology, serology and clinical observations. Genetic study and hepatic copper content are tedious modalities with limited availability. A concerted collaborative effort is the only way forward to enable prompt therapy.
CONFLICTS OF INTEREST The authors have none to declare.
http://dx.doi.org/10.1016/j.jceh.2017.05.202
51
http://dx.doi.org/10.1016/j.jceh.2017.05.203
DIAGNOSING WILSON’S DISEASE–UNITED WE STAND DIVIDED WE FALL: A FIVE-YEAR PATHOLOGICAL PERSPECTIVE AT A NORTH INDIAN TERTIARY REFERRAL CENTRE
52
Kavita Gaur, Puja Sakhuja ∗ , Kaushik Majumdar, Siddharth Srivastava, Amarender Singh
CLINICAL PROFILE AND OUTCOMES OF PRIMARY SCLEROSING CHOLANGITIS IN A TERTIARY CARE CENTRE Pratik S. Tibdewal, Pratin Bhatt, Abhishek Sadalage, Abhinav Jain, Shobna Bhatia, Akash Shukla ∗
GB Pant Institute of Postgraduate Medical Education and Research, New Delhi, India
Seth GS Medical College, Mumbai, India
E-mail address: [email protected] (P. Sakhuja).
E-mail address: [email protected] (A. Shukla).
Background and Aim: Diagnosing Wilson’s disease [WD] is a challenge for the clinician and the pathologist. Clinical manifestations of WD are protean. Conflicting biochemical reports &/non-conclusive histology delay therapeutic initiation. Though genetic analysis is considered gold standard, cost issues hinder mutational analysis. Recent work on the pathological spectrum of Indian cases of WD is sparse. The present study was carried out to analyze the utility of the liver biopsy in clinching the final diagnosis. Methods: Cases of clinically suspected and or pathologically proven WD were retrieved from the e-database at the Department of Pathology, GB Pant Institute of Postgraduate Medical Education and Research New Delhi over a five years (2012–2016). The presence/absence of steatosis, hepatocyte ballooning, nuclear glycogenation, Mallory Hyaline, histochemical evidence of copper binding protein or copper and Ishak’s fibrosis score were documented. Histology was correlated with clinical and or biochemical data wherever available. Results: A total of thirty-seven cases were studied. Mean patient age was 14.91 years. Kayser-Fleischer rings were seen in 18.9% cases. Clinical suspicion with a suggestive or definitive biochemistry was noted in 40.5% and
Background and Aim: Primary sclerosing cholangitis (PSC) is a rare chronic cholestatic liver disease. Current epidemiological data are limited to studies of western populations. Our aim was to define the profile of PSC in an ethnically diverse Indian population. Methods: Patients records from a database of over 17000 patients Liver Clinic were searched for cases of PSC. Patients who presented between January 2008 and January 2016 and had minimum 6 month follow up were identified; their records were reviewed for clinical profile, inflammatory bowel disease (IBD) co-morbidity, and major endpoints like death, hepatocellular carcinoma, cholangiocarcinoma, liver transplantation (LT). Results: We identified 32 (20 men) PSC cases (21 large duct, 66% and 11 small duct PSC, 36%) with a median age of 35 (range 7–63) years. The median duration of follow up was 21 (6–96) months. Autoimmune hepatitis (AIH)-PSC overlap was seen in 6 (19%), and IBD in 5 (16%) cases. Nineteen (59%) and 7 (22%) cases were diagnosed during symptomatic and decompensated phase, respectively, and 3 patients (9%) each were diagnosed during asymptomatic and biochemical phase. Jaundice (n = 24), fatigue (23), and abdominal pain (17) were most frequent symptoms. Median bilirubin, AST, ALT, ALP, albumin and INR
Journal of Clinical and Experimental Hepatology July 2017 Vol. 7 No. S2
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and zinc. Among those on D-penicillamine monotherapy, favourable outcome was seen in 58% (n = 35). 13% (n = 8) had drug toxicity and 12% (n = 7) required addition of zinc due to disease progression. 6% (n = 4) were started on trientine. Overall favourable outcome was observed in 70% (n = 46). Conclusions: This is the first and largest pediatric experience of hepatic WD. Majority of the hepatic WD can be managed on D-penicillamine monotherapy. Addition or change of chelation is required in select situations of drug toxicity and neurological presentation
CONFLICTS OF INTEREST The authors have none to declare.
histology confirmed/suggested WD in 86.4% cases. Copper histochemistry aided the diagnosis in 67.5% cases. The suggestion of the diagnosis in the absence of clinical/biochemical evidence was made in 27% cases. Follow up data was available in half and all responded to chelation therapy. Conclusion: WD is clinically, biochemically and histologically a heterogenous disease. The majority of hepatic cases are diagnosed by histology, serology and clinical observations. Genetic study and hepatic copper content are tedious modalities with limited availability. A concerted collaborative effort is the only way forward to enable prompt therapy.
CONFLICTS OF INTEREST The authors have none to declare.
http://dx.doi.org/10.1016/j.jceh.2017.05.202
51
http://dx.doi.org/10.1016/j.jceh.2017.05.203
DIAGNOSING WILSON’S DISEASE–UNITED WE STAND DIVIDED WE FALL: A FIVE-YEAR PATHOLOGICAL PERSPECTIVE AT A NORTH INDIAN TERTIARY REFERRAL CENTRE
52
Kavita Gaur, Puja Sakhuja ∗ , Kaushik Majumdar, Siddharth Srivastava, Amarender Singh
CLINICAL PROFILE AND OUTCOMES OF PRIMARY SCLEROSING CHOLANGITIS IN A TERTIARY CARE CENTRE Pratik S. Tibdewal, Pratin Bhatt, Abhishek Sadalage, Abhinav Jain, Shobna Bhatia, Akash Shukla ∗
GB Pant Institute of Postgraduate Medical Education and Research, New Delhi, India
Seth GS Medical College, Mumbai, India
E-mail address: [email protected] (P. Sakhuja).
E-mail address: [email protected] (A. Shukla).
Background and Aim: Diagnosing Wilson’s disease [WD] is a challenge for the clinician and the pathologist. Clinical manifestations of WD are protean. Conflicting biochemical reports &/non-conclusive histology delay therapeutic initiation. Though genetic analysis is considered gold standard, cost issues hinder mutational analysis. Recent work on the pathological spectrum of Indian cases of WD is sparse. The present study was carried out to analyze the utility of the liver biopsy in clinching the final diagnosis. Methods: Cases of clinically suspected and or pathologically proven WD were retrieved from the e-database at the Department of Pathology, GB Pant Institute of Postgraduate Medical Education and Research New Delhi over a five years (2012–2016). The presence/absence of steatosis, hepatocyte ballooning, nuclear glycogenation, Mallory Hyaline, histochemical evidence of copper binding protein or copper and Ishak’s fibrosis score were documented. Histology was correlated with clinical and or biochemical data wherever available. Results: A total of thirty-seven cases were studied. Mean patient age was 14.91 years. Kayser-Fleischer rings were seen in 18.9% cases. Clinical suspicion with a suggestive or definitive biochemistry was noted in 40.5% and
Background and Aim: Primary sclerosing cholangitis (PSC) is a rare chronic cholestatic liver disease. Current epidemiological data are limited to studies of western populations. Our aim was to define the profile of PSC in an ethnically diverse Indian population. Methods: Patients records from a database of over 17000 patients Liver Clinic were searched for cases of PSC. Patients who presented between January 2008 and January 2016 and had minimum 6 month follow up were identified; their records were reviewed for clinical profile, inflammatory bowel disease (IBD) co-morbidity, and major endpoints like death, hepatocellular carcinoma, cholangiocarcinoma, liver transplantation (LT). Results: We identified 32 (20 men) PSC cases (21 large duct, 66% and 11 small duct PSC, 36%) with a median age of 35 (range 7–63) years. The median duration of follow up was 21 (6–96) months. Autoimmune hepatitis (AIH)-PSC overlap was seen in 6 (19%), and IBD in 5 (16%) cases. Nineteen (59%) and 7 (22%) cases were diagnosed during symptomatic and decompensated phase, respectively, and 3 patients (9%) each were diagnosed during asymptomatic and biochemical phase. Jaundice (n = 24), fatigue (23), and abdominal pain (17) were most frequent symptoms. Median bilirubin, AST, ALT, ALP, albumin and INR
Journal of Clinical and Experimental Hepatology July 2017 Vol. 7 No. S2
S115
MISCELLANEOUS
and zinc. Among those on D-penicillamine monotherapy, favourable outcome was seen in 58% (n = 35). 13% (n = 8) had drug toxicity and 12% (n = 7) required addition of zinc due to disease progression. 6% (n = 4) were started on trientine. Overall favourable outcome was observed in 70% (n = 46). Conclusions: This is the first and largest pediatric experience of hepatic WD. Majority of the hepatic WD can be managed on D-penicillamine monotherapy. Addition or change of chelation is required in select situations of drug toxicity and neurological presentation