Determinants, profile and outcomes of hepatitis A virus-associated severe acute liver injury in adults.

BACKGROUND AND OBJECTIVES: Hepatitis A virus (HAV)-related hepatitis is witnessing an epidemiological transition with increasing trends in adults. While uncomplicated hepatitis remains common, evidence suggests it to be a growing cause for acute liver failure (ALF). In between the two extremes exists severe acute liver injury (s-ALI) which has a propensity to transition to ALF. We aimed at describing the clinical profile of patients with HAV-related s-ALI and identifying potential predictors of progression to ALF. METHODS: This was a single-center retrospective analysis of adult patients admitted with HAV-related s-ALI between April 2022 and December 2023. Demographic and laboratory parameters were compared between patients with only s-ALI and those with ALF. Predictors of progression from s-ALI to ALF were identified using logistic regression. RESULTS: Forty-three patients satisfied criteria of s-ALI, of which 33 (76.7%) had only s-ALI, while 10 (23.3%) had ALF. Patients with s-ALI had lesser leukocytosis (6.3 ± 3 vs. 13.2 ± 4.8), less incidence of acute kidney injury (9.1% vs. 40%) and lower model for end-stage liver disease (MELD) (20 [18-24.5] vs. 31.5 [26-42]), arterial lactate (2.1 [1.3-3.1] vs. 6.3 [5.2-8.0]), arterial ammonia (94 [72-118] vs. 299 [188-573]), procalcitonin (0.5 [0.28-1.25] vs. 3.2 [1.2-6.1]) and ferritin (482 [213-1633] vs. 5186 [1341-11,053]) compared to HAV-ALF (p < 0.05 for all). Three patients (9.09%) with s-ALI progressed to ALF of whom one (3%) died. Baseline ammonia levels (unadjusted odds ratio [OR] 1.03 [1.01-1.06]) and leukocyte count (OR 1.00 [1.00-1.01]) tended to be associated with ALF progression, although none was significant after multi-variable adjustment. Ammonia levels had an area under receiver operating curve of 0.816 (0.64-0.93) (p = 0.009) (cut-off of 144 µmol/L). Additional comorbidities did not impact overall outcomes. CONCLUSION: HAV presents as s-ALI in young adults, with almost one in 10 progressing to ALF. Baseline ammonia may be an important predictor of progression even in s-ALI, but mandates larger well-designed studies.

Magnetic resonance elastography (MRE) outperforms acoustic force radiation impulse (ARFI) in predicting oesophageal varices in obese NAFLD cirrhosis.

PURPOSE: Liver stiffness measurement (LSM) by transient elastography has been shown to underperform in high-risk varices (HRVs) prediction in obese non-alcoholic fatty liver disease (NAFLD) compensated cirrhosis (CC). LSM by magnetic resonance elastography (MRE) and acoustic force radiation impulse (ARFI) has been shown to be useful in prediction of oesophageal varices (EVs), but has limited evidence in obese NAFLD-CC. METHODS: Obese patients with NAFLD-CC who underwent MRE and ARFI for LSM and endoscopy for screening of varices were enrolled. Performance of MRE and ARFI for predicting EVs or HRVs was evaluated using area under receiver operating characteristics (AUROC) curves and regression analyses were performed for predictor variables. RESULTS: One hundred eight patients [mean age 54.7 ± 9.6 years, median BMI, 28.5 (26.4-30.0) kg/m2. 72.2% diabetics, 45.4% hypertensive] were enrolled. Fifty-two (48.1%) had no varices, while 29 (26.8%) and 27 (25%) had low-risk varices (LRVs) and HRVs, respectively. MRE-LSM was higher in patients with LRVs (p = 0.01) or HRVs (p = 0.001) against those without varices. ARFI-LSM did not differ significantly between those without and with LRVs or HRVs (p > 0.05 for all). There was a low correlation between ARFI-LSM and MRE-LSM in the overall cohort (r = 0.19). Only platelet count (PC) [0.98 (0.97-0.99)] and MRE-LSM [1.8 (1.26-2.79)] were predictors of HRVs. At a cut-off of 4.75, MRE showed a sensitivity of 96.3%. Model combining MRE-LSM with PC had a diagnostic AUROC of 0.77 and 0.76 for EVs and HRVs. CONCLUSION: In obese NAFLD-CC, MRE-LSM is significantly higher in patients with varices. MRE combined with PC predicts EVs and HRVs with better accuracy than ARFI.

Definitive Role of Contrast-enhanced Endoscopic Ultrasound (EUS) in the Diagnosis of Hepatocellular Carcinoma With Non-diagnostic Cross-sectional Imaging: A Case Report.

The diagnosis of hepatocellular carcinoma is usually centered around cross-sectional imaging (CSI) modalities. However, in some instances focal hepatic lesions may be missed on CSI. Endoscopic ultrasound (EUS) has an evolving role in hepatology and have been shown to be useful in diagnosing focal lesions with advantages of tissue acquisition. We report a case hepatitis B-related cirrhosis presenting with acute decompensation, wherein EUS was used to identify HCC and perform tissue acquisition as CSI was non-diagnostic.

Endoscopic ultrasonography-guided rendezvous technique for removal of a long biliary ascariasis: a challenging case.

Video 1Video demonstrating the EUS-rendezvous technique for biliary access and removal of a long biliary ascariasis.

Urinary neutrophil gelatinase-associated lipocalin determines short-term mortality and type of acute kidney injury in cirrhosis.

BACKGROUND AND AIM: Acute kidney injury increases mortality in cirrhotic patients by four fold. This study aimed to determine the usefulness of urinary neutrophil gelatinase-associated lipocalin (uNGAL) for differential diagnosis for acute kidney injury and for predicting short-term mortality in cirrhotic patients. METHODS: We enrolled 94 patients of decompensated cirrhosis. uNGAL was measured upon hospital admission in all patients. Patients with urinary tract infection and anuria were excluded. Patients were followed for 30 days or until death. RESULTS: Ten (9%) patients had normal kidney function, 9 (11.37%) stable chronic kidney disease, 32 (29.50%) prerenal azotemia, 33 (36.37%) hepatorenal syndrome (HRS), and 10 (13.64%) intrinsic acute kidney injury (iAKI). Prerenal azotemia had lower median uNGAL values compared to HRS and iAKI (95.50 vs 465.00 vs 1217.50, P < 0.001). uNGAL levels were significantly higher in patients who died within 30 days (717.17 ± 494.26 vs 331.65 ± 313.65 ng/mL, P -0.0017). On univariate analysis, serum creatinine (sCr), uNGAL, Model for End-Stage Liver Disease (MELD) score on admission, and length of stay were significant, and on multivariate analysis, uNGAL and hepatic encephalopathy (HE) were significant in predicting mortality. CONCLUSIONS: uNGAL at baseline serves as an early marker in differentiating HRS, prerenal AKI, and iAKI in cirrhotic patients, where sCr values are not useful. Patients with higher uNGAL levels had higher transplant-free mortality at 30 days.

Clinical, serological, histopathological and treatment profile of autoimmune hepatitis in the elderly.

AIM OF THE STUDY: Autoimmune hepatitis (AIH), despite being uncommon, is on the rise in the elderly population. However, no study from India has described the natural history and treatment outcome of AIH in the elderly. The aim was to study the characteristics of AIH in the elderly population and compare them with the younger population. MATERIAL AND METHODS: Patients with a diagnosis of AIH based on the revised International Autoimmune Hepatitis Group (IAIHG) criteria were recruited from January 2011 to June 2018. Patients were defined as elderly when ≥ 60 years and young when < 60 years of age. Clinical, serological, histological characteristics and treatment outcome with follow-up until 12 months were analyzed and compared between the two groups. RESULTS: Out of 155 patients, 33 (21.29%) were elderly. Acute-on-chronic liver failure (ACLF) as the presentation was more common in elderly as compared to young AIH patients (39.4% vs. 13.9%, p = 0.0024). Serum alanine aminotransferases and serum creatinine levels were significantly higher in elderly patients as compared to the younger group (p < 0.05). On histology cirrhosis was significantly more common in the elderly group (75.7% vs. 56.6%, p = 0.045). Response to treatment at the end of 12 months was similar in both groups. Due to co-morbidities immunosuppressant could not be started in 18.2% of elderly and 6.5% of younger patients (p = 0.065). CONCLUSIONS: AIH is an important differential diagnosis among the elderly population presenting with ACLF and cirrhosis. When given appropriate immunosuppressants they have a similar outcome as compared to the youngest population.

CLINICAL UTILITY OF RISK SCORES IN VARICEAL BLEEDING.

BACKGROUND: Variceal bleeding remains important cause of upper gastrointestinal bleed. Various risk scores are used in risk stratification for non-variceal bleed. Their utility in variceal bleeding patients is not clear. This study aims to compare probability of these scores in predicting various outcomes in same population. OBJECTIVE: This study aims to compare probability of these scores in predicting various outcomes in same population. To study characteristics and validate AIMS65, Rockall, Glasgow Blatchford score(GBS), Progetto Nazionale Emorragia Digestiva (PNED) score in variceal Upper Gastrointestinal Bleed (UGIB) patients for predicting various outcomes in our population. METHODS: Three hundred subjects with UGIB were screened prospectively. Of these 141 patients with variceal bleeding were assessed with clinical, blood investigations and endoscopy and risk scores were calculated and compared to non-variceal cases. All cases were followed up for 30 days for mortality, rebleeding, requirement of blood transfusion and need of radiological or surgical intervention. RESULTS: Variceal bleeding (141) was more common than non variceal (134) and 25 had negative endoscopy. In variceal group, cirrhosis (85%) was most common etiology. Distribution of age and sex were similar in both groups. Presence of coffee coloured vomitus (P=0.002), painless bleed (P=0.001), edema (P=0.001), ascites (P=0.001), hemoglobin <7.5 gms (P<0.001), pH<7.35 (P<0.001), serum bicarbonate level <17.6 mmol/L (P<0.001), serum albumin<2.75 gms% (P<0.001), platelet count <1.2 lacs/µL (P<0.001), high INR 1.35 (P<0.001), BUN >25mmol/L (P<0.001), and ASA status (P<0.001), high lactate >2.85 mmol/L (P=0.001) were significant. However, no factor was found significant on multivariate analysis. Rockall was found to be significant in predicting mortality and rebleed. AIMS65 was also significant in predicting mortality. GBS was significant in predicting blood transfusion and need of intervention. PNED score was significant in all events except mortality. CONCLUSION: All four scores had lower predictive potential in predicting events in variceal bleed. However, AIMS65 & Rockall score were significant in predicting mortality, while GBS in predicting need of transfusion and intervention. PNED score was significant in all events except mortality.

Utilidade clínica dos escores de risco no sangramento varicoso / Clinical utility of risk scores in variceal bleeding

ABSTRACT BACKGROUND: Variceal bleeding remains important cause of upper gastrointestinal bleed. Various risk scores are used in risk stratification for non-variceal bleed. Their utility in variceal bleeding patients is not clear. This study aims to compare probability of these scores in predicting various outcomes in same population. OBJECTIVE: This study aims to compare probability of these scores in predicting various outcomes in same population. To study characteristics and validate AIMS65, Rockall, Glasgow Blatchford score(GBS), Progetto Nazionale Emorragia Digestiva (PNED) score in variceal Upper Gastrointestinal Bleed (UGIB) patients for predicting various outcomes in our population. METHODS: Three hundred subjects with UGIB were screened prospectively. Of these 141 patients with variceal bleeding were assessed with clinical, blood investigations and endoscopy and risk scores were calculated and compared to non-variceal cases. All cases were followed up for 30 days for mortality, rebleeding, requirement of blood transfusion and need of radiological or surgical intervention. RESULTS: Variceal bleeding (141) was more common than non variceal (134) and 25 had negative endoscopy. In variceal group, cirrhosis (85%) was most common etiology. Distribution of age and sex were similar in both groups. Presence of coffee coloured vomitus (P=0.002), painless bleed (P=0.001), edema (P=0.001), ascites (P=0.001), hemoglobin <7.5 gms (P<0.001), pH<7.35 (P<0.001), serum bicarbonate level <17.6 mmol/L (P<0.001), serum albumin<2.75 gms% (P<0.001), platelet count <1.2 lacs/µL (P<0.001), high INR 1.35 (P<0.001), BUN >25mmol/L (P<0.001), and ASA status (P<0.001), high lactate >2.85 mmol/L (P=0.001) were significant. However, no factor was found significant on multivariate analysis. Rockall was found to be significant in predicting mortality and rebleed. AIMS65 was also significant in predicting mortality. GBS was significant in predicting blood transfusion and need of intervention. PNED score was significant in all events except mortality. CONCLUSION: All four scores had lower predictive potential in predicting events in variceal bleed. However, AIMS65 & Rockall score were significant in predicting mortality, while GBS in predicting need of transfusion and intervention. PNED score was significant in all events except mortality.

RESUMO CONTEXTO: O sangramento varicoso permanece como importante causa de sangramento gastrointestinal superior. Vários escores são utilizados na estratificação do risco para sangramento não varicoso. Sua utilidade em pacientes de sangramento varicoso não é clara. OBJETIVO: Este estudo tem como objetivo comparar a probabilidade desses escores em prever vários desfechos na mesma população. Estudar característica e validar o AIMS65, o Rockall, a Pontuação de Glasgow Blatchford (GBS), o escore Progetto Nazionale Emorragia Digestiva (PNED), na pontuação em hemorragia gastrointestinal varicosa superior (UGIB) em pacientes para prever vários resultados em nossa população. MÉTODOS: Um total de 300 indivíduos com UGIB foram rastreados prospectivamente. Destes, 141 pacientes com sangramento varicoso foram submetidos à avaliação clínica, hematológica e endoscopia tendo seus escores de risco calculados e comparados aos casos não-varicosos. Todos os casos foram acompanhados por 30 dias para mortalidade, necessidade de transfusão sanguínea por ressangramento ou de necessidade de intervenção radiológica ou cirúrgica. RESULTADOS: O sangramento varicoso (141) foi mais comum do que não varicoso (134) e em 25 teve endoscopia negativa. No grupo varicoso, a cirrose foi a etiologia mais comum (85%). A distribuição da idade e do sexo foi semelhante em ambos os grupos. Presença de vômito colorido em borra de café (P=0,002), sangramento indolor (P=0,001), edema (P=0,001), ascite (P=0,001), hemoglobina <7,5 GMS (P<0,001), pH <7,35 (P<0,001), nível de bicarbonato sérico <17,6 mmol/L (P<0,001), albumina sérica <2,75 GMS% (P<0,001), contagem plaquetária <1,2 Lacs/μL (P<0,001), INR elevada 1,35 (P<0,001), Bun >25 mmol/L (P<0,001) e estado ASA (P<0,001), lactato elevado >2,85 mmol/L (P=0,001) foram significativos. Entretanto, nenhum fator foi encontrado como significativo na análise multivariada. Rockall foi significativo em prever a mortalidade e ressangrar. O AIMS65 também foi significante na predição da mortalidade. O GBS foi significativo na predição de transfusão sanguínea e necessidade de intervenção. O escore de PNED foi significante em todos os eventos, exceto mortalidade. CONCLUSÃO: Todos os quatro escores apresentaram menor potencial preditivo na predição de eventos em sangramento varicoso. Entretanto, o AIMS65 e o escore de Rockall foram significantes na predição da mortalidade, enquanto o GBS na predição da necessidade de transfusão e intervenção. O escore de PNED foi significante em todos os eventos, exceto mortalidade.

Massive Lower Gastrointestinal Bleeding Due to Fulminant Necrotizing Amebic Colitis: A Diagnostic and Therapeutic Challenge.

Acute fulminant necrotizing amebic colitis rarely presents with massive lifethreatening lower gastrointestinal bleeding without diarrhea. Diagnosis is difficult as colonoscopy is suboptimal due to active bleeding, stool testing is often negative and a positive serology cannot confirm the diagnosis. We herein report a case of a 39-year-old male who presented with profuse bleeding per rectum, without associated significant antecedent history of fever or diarrhea. Colonoscopy was inconclusive as active bleeding obscured the vision. Computed tomography of abdomen revealed non-specific thickening of the caecum. Emergency laparotomy with right hemicolectomy and temporary ileostomy was performed. Microscopic examination of colonic mucosa revealed Entamoeba histolytica trophozoites with erythrophagocytosis suggestive of fulminant amebic colitis. Intravenous metronidazole was given subsequently and patient recovered completely. Ileocolonic anastomosis was done after closing the ileostomy three months later. This case highlights this exceedingly rare presentation of fulminant amebic colitis which poses a diagnostic challenge and can be life threatening without early surgical intervention.

Comparison of risk scores in upper gastrointestinal bleeding in western India: A prospective analysis.

AIM: To study the upper gastrointestinal bleeding (UGIB) characteristics and to validate the Rockall and Glasgow-Blatchford scores (GBS), Progetto Nazionale Emorragica Digestiva (PNED) and albumin, international normalized ratio (INR), mental status, systolic blood pressure, and age > 65 (AIMS65) risk scores in predicting outcomes in patients with UGIB. METHODS: Three hundred subjects with hematemesis and/or melena were prospectively enrolled and followed up for 30 days. All patients were assessed by hematological investigations, imaging, and endoscopy and risk scores were calculated. RESULTS: The mean age was 43.5 ± 17.2 years, and 207 (69%) were males. Hematemesis was the most common presentation (94%). Variceal bleeding was the most common etiology (47.7%). Thirty patients died (10%) and 50 had rebleeding (16.7%). On univariate analysis, serum albumin ≤ 2.7 gm% (p = 0.008), Glasgow Coma scale ≤ 13.9 (p = 0.001), serum bilirubin > 3 mg/dL (p = 0.004), serum bicarbonate ≤ 15.7 mEq/L (p = 0.001), systolic blood pressure < 90 mmHg (p = 0.004), and arterial pH ≤ 7.3 (p = 0.003) were found to be the predictors of mortality. No variable was found significant on multivariate analysis. All four scores were significant in predicting mortality, but Rockall (area under receiver operating characteristic [AUROC] 0.728) was better than others. Rebleeding was better predicted by PNED (modified) (AUROC 0.705). In predicting the need for transfusion and surgical or radiological intervention, GBS score > 0 was significant while score of < 2 classified patients into low risk for mortality with high negative predictive value. CONCLUSION: Our study showed that the variceal bleeding was the commonest cause of UGIB. Rockall score was more significant in predicting mortality while PNED for rebleeding. Low risk for mortality, need for blood transfusion, or interventions were accurately predicted by GBS.

An unusual case of obstructive jaundice: ampullary Burkitt lymphoma.

Primary lymphomas of the digestive tract are uncommon heterogenous group of neoplasms that primarily affects stomach. Lymphomatous involvement of small intestine is amongst the rare lymphomas; ampullary involvement is even rarer. It is important to recognize this entity early as it mimics periampullary neoplasms and its management is different. We present the case of a 14-year-old male who presented with rapidly progressive obstructive jaundice and weight loss and ultimately was diagnosed to have ampullary Burkitt's lymphoma. Early diagnosis of this aggressive tumor and prompt induction of chemotherapy dramatically improved the patient's condition. It is crucial to consider Burkitt's lymphoma as a differential diagnosis of obstructive jaundice as both the treatment and prognosis are markedly different.

Minimal Hepatic Encephalopathy in Indians: Psychometric Hepatic Encephalopathy Score and Inhibitory Control Test for Diagnosis and Rifaximin or Lactulose for Its Reversal.

Background and Aims: Psychometric hepatic encephalopathy score (PHES) is used widely for diagnosis of minimal hepatic encephalopathy (MHE). This prospective study aimed to determine the utility of the inhibitory control test (ICT) for the diagnosis of MHE. Additionally, the efficacy of rifaximin and lactulose for reversal of MHE was evaluated. Methods: A total of 180 eligible cirrhotic patients underwent testing for MHE. When PHES was ≤ -5 and ICT lures were ≥ 14, MHE was diagnosed. The 108 patients with MHE were randomized to three groups for treatment with either lactulose, rifaximin, or placebo. Treatment outcomes were measured at the end of 3 months. Results: The 108 patients with MHE diagnosed by PHES and/or ICT accounted for 60%. The diagnosis of MHE was made by both ICT and PHES positivity in 56 patients, by abnormal ICT and normal PHES in 37 patients, and by abnormal PHES and normal ICT in 15 patients. For diagnosis of MHE, ICT had sensitivity of 78.87%, specificity of 66.06% with 60.22% positive predictive value and 82.76% negative predictive value. An area under the curve value of 0.724 (95% CI: 0.653-0.788) was obtained for diagnosis of MHE. Reversal of MHE was seen in 71.42%, 70.27% and 11.11% of patients in the rifaximin, lactulose and placebo arms (p < 0.001). Rifaximin showed better tolerability compared to lactulose. Conclusions: For the diagnosis of MHE, ICT is a simple tool but has lower sensitivity and better specificity than PHES. Rifaximin is as efficacious as lactulose in the treatment of MHE and better tolerated.

An Enigmatic Liver Mass in a Child.

Hepatic space occupying lesions in childhood are a diagnostic challenge, as they are caused by a variety of malignant and nonmalignant disorders with a different prognosis and, of course, treatment. They are often misdiagnosed or diagnosed only after surgical resection. A 14-year-old boy presented with abdominal pain, evening-rise fever with loss of appetite and weight. The patient also developed jaundice after 2 months of above symptoms. Ultrasound of the abdomen showed an irregular infiltrative mass in segment IV of the liver. Gadobenate disodium magnetic resonance imaging done showed T1 hypointense and T2 hyperintense lesions in segment VIII of the liver with extension into porta with delayed enhancement suggestive of fibrous tumor. Liver biopsy showed extensive liver parenchymal fibrosis with a mixed inflammatory infiltrate with eosinophils. Bacterial, tubercular, and fungal culture of liver biopsy were negative. Although serum IgG4 levels were 7.88 g/L (N =1.9 g/L), IgG4 staining of liver biopsy was negative. The patient was started on prednisolone 1 mg/kg considering the diagnosis of inflammatory pseudotumor (IPT). Twenty days after starting the steroid, mass lesions were converted into multicystic abscess requiring antibiotics and pigtail drainage. On follow-up, patient had improved symptoms with mass lesions turned into small-sized abscess cavity. Hepatic IPTs are difficult to differentiate from malignant tumors, as they are rare and can have variable imaging findings. To avoid inadvertent surgery, histological confirmation of the hepatic mass is essential. Steroids should be used with caution with close follow-up to prevent iatrogenic complications, such as a chronic liver abscess. HOW TO CITE THIS ARTICLE: Thanage R, Jain S, Sonthalia N, et al. An Enigmatic Liver Mass in a Child. Euroasian J Hepato-Gastroenterol 2019;9(2):104-107.

Natural History and Treatment Outcomes of Severe Autoimmune Hepatitis.

GOALS: The aim of this study was to analyze the natural history and treatment outcomes of autoimmune hepatitis (AIH) variants presenting with severe-AIH. BACKGROUND: Severe acute presentation is an uncommon manifestation of AIH, and it remains poorly characterized. MATERIALS AND METHODS: We included 101 patients with AIH from January 2011 to December 2015. Patients were classified as seropositive-AIH and seronegative-AIH. Patients with acute liver failure, acute-on-chronic liver failure, and severe acute hepatitis were defined as severe-AIH patients. Patient characteristics and treatment outcomes with follow-up until 12 months were analyzed between the different groups. RESULTS: Out of 101 cases, 24 (23.76%) had severe AIH. Of them 9 (37.5%) had severe acute hepatitis, 3 (12.5%) had acute liver failure, and 12 (50%) had acute-on-chronic liver failure. Seronegative-AIH patients presented with severe-AIH significantly more frequently compared with seropositive-AIH patients (50% vs. 20.27%, P=0.022). Severe-AIH had 50% complete responders, 25% partial responders, and 25% treatment failures. Jaundice (88.88% vs. 68.7%, P=0.048), encephalopathy (55.55% vs. 6.66%, P=0.014), and higher international normalized ratio values (2.17±0.60 vs. 1.82±0.14, P=0.038) were factors associated with nonresponse rather than the presence or absence of autoantibodies in severe-AIH. The hazard ratio for predicting remission in the non-severe AIH group as compared with the severe-AIH group was 1.502, which was statistically not significant (95% CI, 0.799-2.827; P=0.205). CONCLUSION: Approximately 24% of patients with AIH have severe-AIH. Conventional autoantibodies are often absent in severe-AIH; however, it does not alter the outcome. Immunosuppressants should be given expediently in patients with severe-AIH.

A Child with Debilitating Pruritus.

We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of progressive familial intrahepatic cholestasis type I. Medical therapy with ursodeoxycholic acid, cholestyramine, rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. To our knowledge this is only the sixth case of progressive familial intrahepatic cholestasis type I reported from India. Herein we discuss the diagnostic and therapeutic hurdles that one encounters in managing progressive familial intrahepatic cholestasis and also review the literature regarding this rare disorder.