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Polycystic Liver Disease

Caroli Disease


Presentation

  • We present a patient with polycystic disease of the liver who developed an aneurysm arising from the right hepatic artery presenting with surgical obstructive jaundice.[ncbi.nlm.nih.gov]
  • Portal hypertension as a presenting manifestation is very rare but may be caused by associated hepatic fibrosis or massive hepatic replacement of liver by the cysts.[ncbi.nlm.nih.gov]
  • The patient presented with abdominal pain, nausea, vomiting and lost weight. Cyst fenestration through laparoscopic approach resolved the symptoms.[ncbi.nlm.nih.gov]
  • Polycystic liver disease is commonly asymptomatic but may present with hepatomegaly, abdominal distension, and dull abdominal pain.[ncbi.nlm.nih.gov]
  • Clinical symptoms at presentation were present in 111 (84%) patients. γ-glutamyl transferase was elevated to 1.4 times upper limit of normal (interquartile range 1.0-2.7).[ncbi.nlm.nih.gov]
Camping
  • Progressive cyst growth is sustained by a cAMP-dependent Ras/ERK/HIFα pathway, leading to increased vascular endothelial growth factor A (VEGF-A) signaling.[ncbi.nlm.nih.gov]
  • Somatostatin analogues reduce intracellular cAMP, and this might prevent fluid accumulation in hepatic cysts.[ncbi.nlm.nih.gov]
  • […] kinase A-cAMP response element-binding protein signaling pathway.[ncbi.nlm.nih.gov]
  • ., cAMP, intracellular calcium, receptor tyrosine kinase, transient receptor potential cation channel subfamily V member 4 (TRPV4) channel, mechanistic target of rapamycin (mTOR), histone deacetylase (HDAC6), Cdc25A phosphatase, miRNAs and metalloproteinases[ncbi.nlm.nih.gov]
  • Administration of AVP increased proliferation and cAMP levels of small cholangiocytes and LCDE cells. We found no effect in the proliferation of large mouse cholangiocytes and H69 cells.[ncbi.nlm.nih.gov]
Constitutional Symptom
  • We present 2 patients with polycystic liver disease (PCLD), both with constitutional symptoms and bacteremia.[ncbi.nlm.nih.gov]
Right Upper Quadrant Pain
  • The onset of right upper quadrant pain, back pain, and shortness of breath prompted evaluation of a 32-year-old woman with progressive hepatomegaly.[ncbi.nlm.nih.gov]
  • The patient may also develop fetor hepaticus, enlarged superficial abdominal veins, muscle atrophy, right upper quadrant pain that worsens when he sits up or leans forward, and a palpable spleen.[checkorphan.org]
Lower Abdominal Pain
  • Upper- and lower abdominal pain and dyspnoea were significantly associated with a reduced PCS (P 0.01). No correlation was found between liver volume and HRQL.[ncbi.nlm.nih.gov]

Workup

  • She refused further workup including liver biopsy. Discussion Polycystic liver disease occurs either in isolation or as part of ADPKD or uncommonly adult dominant polycystic liver disease (ADPLD).[cureus.com]

Treatment

  • After the treatment, the cyst size was measured, and the patients were followed up.[ncbi.nlm.nih.gov]
  • The aim of this report is to outline the treatment of polycystic liver disease with laparoscopic fenestration.[ncbi.nlm.nih.gov]
  • To understand the process of treatment decision, our aim was to identify factors that increased the likelihood of treatment. We performed a cross-sectional study using an international population of patients with PLD.[ncbi.nlm.nih.gov]
  • However, the modest clinical benefits, need for long-term maintenance therapy, and the high cost of treatment justify the necessity for more effective treatment options.[ncbi.nlm.nih.gov]
  • Patients with PLD and total liver volume (TLV) 2500ml were randomly assigned to UDCA treatment (15-20mg/kg/day) for 24weeks, or to no treatment. Primary endpoint was proportional change in TLV.[ncbi.nlm.nih.gov]

Prognosis

  • CONCLUSIONS: Our experience demonstrates that PLD patients with extensive hepatic involvement and who are treated with LT have good long-term prognosis and excellent symptoms relief.[ncbi.nlm.nih.gov]
  • The prognosis of patients with liver metastases is generally poor but fulminant liver failure is a very rare occurrence. Estrogen stimulation seems to be a risk factor for breast cancer and severe PLD.[ncbi.nlm.nih.gov]
  • To identify predictor factors, beyond MELD criteria that relate to the increased liver volume before development of late symptoms is essential to expeditiously treat patients with the poorest prognosis to improve their outcomes.[ncbi.nlm.nih.gov]
  • Prognosis Quality of life may be significantly affected by recurrent cholangitis. Prognosis depends on the clinical course and the risk of cholangiocarcinoma. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Most patients with PCLD have good prognosis and do not require treatment. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • Case report peer-reviewed Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension Figures etc.[cureus.com]
  • […] resemble corpora atretica or fibrosa of ovary TERMINOLOGY Abbreviations • Polycystic liver disease (PLD) • Autosomal dominant polycystic kidney disease (ADPKD) Definitions • Genetic disorder characterized by progressive development of multiple liver cysts ETIOLOGY[basicmedicalkey.com]
  • Etiology CD and CS are strongly related to PKHD1 mutations. Abnormal development of the embryonic bile ducts at the stage of ductal plate has been suggested.[orpha.net]
  • Etiology Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait (ADPCLD).[orpha.net]
  • Banales J.M. 2017 18 Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 ) Doshi S.D....Goldberg D.S. 2017 19 Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies[malacards.org]

Epidemiology

  • Areas covered: This review begins by looking at the epidemiology of PLD and its natural history. It then describes the pathophysiology and corresponding potential treatment strategies for PLD.[ncbi.nlm.nih.gov]
  • Summary Epidemiology Exact prevalence and annual incidence data are not available for CD, but the disease is known to be very rare. An estimated prevalence of 1/1,000,000 has been suggested. There is a slight female gender bias.[orpha.net]
  • Summary Epidemiology The prevalence of ADPCLD is 1/100, 000. Clinical description Women are predominantly affected and have a larger number of cysts than affected males.[orpha.net]
  • The rate of single cysts is about 68–75 % [ 5 , 6 ]. 8.2.1 Pathogenesis and Epidemiology Simple cysts contain a clear, bile-like fluid.[abdominalkey.com]
  • ., Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases. World J Gastroenterol, 2013. 19(35): p. 5775-86. 4.[rarediseases.org]
Sex distribution
Age distribution

Pathophysiology

  • AIM: To provide a systemic review on the pathophysiology and management of PCLD.[ncbi.nlm.nih.gov]
  • It then describes the pathophysiology and corresponding potential treatment strategies for PLD. Expert commentary: Traditionally, therapies for symptomatic PLD have been limited to symptomatic management and surgical interventions.[ncbi.nlm.nih.gov]
  • This opens the way to speculate about a recessive mechanism for PCLD pathophysiology and shared molecular pathways between CDG and PCLD.[ncbi.nlm.nih.gov]
  • They have expanded their research programme to look at mechanisms which control the development of biliary epithelial cells, the underlying mechanisms for the pathophysiology of malnutrition in children with liver disease and the natural history and management[books.google.com]

Prevention

  • The sclerosing treatment was successful, thus preventing laparotomy.[ncbi.nlm.nih.gov]
  • Somatostatin analogues reduce intracellular cAMP, and this might prevent fluid accumulation in hepatic cysts.[ncbi.nlm.nih.gov]
  • Our findings suggest that PRKCSH functions as a chaperone-like molecule, which prevents ERAD of TRPP2.[ncbi.nlm.nih.gov]
  • Halting the progressive nature of polycystic liver disease is necessary to prevent further decline of HRQL in severe hepatomegaly. 2015 John Wiley & Sons Ltd.[ncbi.nlm.nih.gov]
  • Furthermore, EVR significantly reduced the amount of liver fibrosis ( P 0.004) thus might also prevent the development of portal hypertension.[ncbi.nlm.nih.gov]

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