The second form is more diffuse, and when associated with portal hypertension and congenital hepatic fibrosis , is often referred to as "Caroli syndrome". [2] The underlying differences between the two types are not well understood. ... The disease affects about one in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease. [3] Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives. [2] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] The first symptoms typically include fever , intermittent abdominal pain , and an enlarged liver . ... In a 10-year period between 1995 and 2005, only 10 patients were surgically treated for Caroli disease, with an average patient age of 45.8 years. [5] After reviewing 46 cases of Caroli disease before 1990, 21.7% of the cases were the result of an intraheptic cyst or nonobstructive biliary tree dilation, 34.7% were linked with congenital hepatic fibrosis , 13% were isolated choledochal cystic dilation, and the remaining 24.6% had a combination of all three. [7] Causes [ edit ] Figure 2 Location of the PKHD1 gene on chromosome 6 , short (p) arm The cause appears to be genetic; the simple form is an autosomal dominant trait, while the complex form is an autosomal recessive trait. [2] Females are more prone to Caroli disease than males. [8] Family history may include kidney and liver disease due to the link between Caroli disease and ARPKD . [6] PKHD1 , the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. PKHD1 is expressed primarily in the kidneys with lower levels in the liver , pancreas , and lungs , a pattern consistent with phenotype of the disease, which primarily affects the liver and kidneys . [2] [6] The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined. ... External links [ edit ] Classification D OMIM : 263200 MeSH : D016767 DiseasesDB : 29874 SNOMED CT : 717232005 External resources eMedicine : radio/131 ped/325 Orphanet : 53035 v t e Cystic diseases Respiratory system Langerhans cell histiocytosis Lymphangioleiomyomatosis Cystic bronchiectasis Skin stratified squamous: follicular infundibulum Epidermoid cyst and Proliferating epidermoid cyst Milia Eruptive vellus hair cyst outer root sheath Trichilemmal cyst and Pilar cyst and Proliferating trichilemmal cyst and Malignant trichilemmal cyst sebaceous duct Steatocystoma multiplex and Steatocystoma simplex Keratocyst nonstratified squamous: Cutaneous ciliated cyst Hidrocystoma no epithelium: Pseudocyst of the auricle Mucocele other and ungrouped: Cutaneous columnar cyst Keratin implantation cyst Verrucous cyst Adenoid cystic carcinoma Breast cyst Human musculoskeletal system Cystic hygroma Human digestive system oral cavity: Cysts of the jaws Odontogenic cyst Periapical cyst Dentigerous cyst Odontogenic keratocyst Nasopalatine duct cyst liver: Polycystic liver disease Congenital hepatic fibrosis Peliosis hepatis bile duct: Biliary hamartomas Caroli disease Choledochal cysts Bile duct hamartoma Nervous system Cystic leukoencephalopathy Genitourinary system Polycystic kidney disease Autosomal dominant polycystic kidney Autosomal recessive polycystic kidney Medullary cystic kidney disease Nephronophthisis Congenital cystic dysplasia Other conditions Hydatid cyst Von Hippel–Lindau disease Tuberous sclerosis v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease v t e Diseases of cilia Structural receptor: Polycystic kidney disease cargo: Asphyxiating thoracic dysplasia basal body : Bardet–Biedl syndrome mitotic spindle : Meckel syndrome centrosome : Joubert syndrome Signaling Nephronophthisis Other/ungrouped Alström syndrome Primary ciliary dyskinesia Senior–Løken syndrome Orofaciodigital syndrome 1 McKusick–Kaufman syndrome Autosomal recessive polycystic kidney See also: ciliary proteins