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Aagenaes Syndrome

LCS


Presentation

  • Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.[orpha.net]
  • MATERIAL AND METHODS: In this paper we review the course of the liver disease in the Norwegian cohort of patients and present results from a case-control study in the patients above 10 years of age.[ncbi.nlm.nih.gov]
  • Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known.[howlingpixel.com]
  • Confirm each diagnosis by consulting a section, organized by symptoms, that presents the full range of differential diagnoses and treatment options for each specific condition.[books.google.com]
Lymphedema of the Lower Extremity
  • Aagenaes syndrome, also called Lymphedema Cholestasis Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[ncbi.nlm.nih.gov]
  • […] of the lower extremities.[scholars.opb.msu.edu]
  • Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities. [1, 2] At least some cases of Aagenaes syndrome have been attributed to mutations[familydiagnosis.com]
  • Add Comment & Answer Answer: an idiopathic form of familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[thatsanswer.com]
Fishing
  • RESULTS: The patients had a similar diet to the healthy controls, except for statistically significant lower intake of energy from total fat (p 0.04) and saturated fat (0.02), and fish (0.05).[ncbi.nlm.nih.gov]
  • […] exon or genomic region Developmental Proteome: Life Cycle Developmental Proteome: Embryogenesis Linkouts FLIGHT - Cell culture data for RNAi and other high-throughput technologies FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array Fly-FISH[flybase.org]
Death in Infancy
  • RESULTS: Cirrhosis with either transplantation or death in infancy or early childhood occurred in six patients; slowly developing cirrhosis occurred in three patients. Two patients may be in the process of developing cirrhosis.[ncbi.nlm.nih.gov]
Death in Childhood
  • In a few patients, however, the course of cholestasis resembles that in PFIC, with cirrhosis and death in childhood; other patients develop cirrhosis as adults.[ncbi.nlm.nih.gov]
Splenomegaly
  • Signs and symptoms: Main signs and symptoms include abdominal pain , acholic stools, fatigue , hepatomegaly, hyperlipidemia , lymphedema, nausea , vomiting , multiple lipomas , splenomegaly , bone pain, cirrhosis, gastrointestinal hemorrhage , portal[xpertdox.com]
  • Abnormality of skin pigmentation Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ] 0001000 Multiple lipomas Multiple fatty lumps 0001012 Splenomegaly[rarediseases.info.nih.gov]
Clay-Colored Stool
  • colored stools 0011985 Biliary tract abnormality 0001080 Fatigue Tired Tiredness [ more ] 0012378 Hepatomegaly Enlarged liver 0002240 Hyperlipidemia Elevated lipids in blood 0003077 Jaundice Yellow skin Yellowing of the skin [ more ] 0000952 Lymphedema[rarediseases.info.nih.gov]
Xerostomia
  • Seven (47%) had two or more subjective symptoms of xerostomia. Three (20%) had a decreased stimulated salivary secretion rate below 0.7 mL/minute. Seven (47%) had dentin caries.[ncbi.nlm.nih.gov]
Tooth Discoloration
  • Thirteen (87%) had tooth discoloration, which was extensive in three (20%). CONCLUSION: Several patients with LCS1 have problems with periodontitis and tooth discoloration.[ncbi.nlm.nih.gov]
Bone Pain
  • Signs and symptoms: Main signs and symptoms include abdominal pain , acholic stools, fatigue , hepatomegaly, hyperlipidemia , lymphedema, nausea , vomiting , multiple lipomas , splenomegaly , bone pain, cirrhosis, gastrointestinal hemorrhage , portal[xpertdox.com]
  • pain 0002653 Cirrhosis Scar tissue replaces healthy tissue in the liver 0001394 Gastrointestinal hemorrhage Gastrointestinal bleeding 0002239 Portal hypertension 0001409 Reduced bone mineral density Low solidness and mass of the bones 0004349 Percent[rarediseases.info.nih.gov]
Yellow Nails
  • nail syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome Yim Ebbin Syndrome Yorifuji Okuno Syndrome YOU-HOOVER-FONG SYNDROME Young Hughes Syndrome Young Syndrome Yunis-Varon syndrome Zadik Barak Levin Syndrome Zazam Sheriff Phillips Syndrome Zechi-Ceide[rgd.mcw.edu]
Papule
  • […] gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules[howlingpixel.com]
Skin Lesion
  • Clinically, the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement[howlingpixel.com]
Retinal Pigmentation
  • Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium.[ncbi.nlm.nih.gov]
  • Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits.[streetdirectory.com]
Fear
  • Each region will apparently host its own league which will consist of six teams, and according to the report, 'teams won't have to fear the possibility of relegation from their new domestic leagues'.[esports-news.co.uk]
Denial
  • Immortals’ denial is allegedly due to it focusing a vast amount of funding into its Los Angeles-based Overwatch League team, according to ESPN.[dotesports.com]

Workup

  • Blood workup should include a complete blood count to rule out anemia or thrombocytopenia (secondary to hypersplenism in the presence of liver cirrhosis), a coagulation status, and liver function tests in liver cirrhosis patients.[accessanesthesiology.mhmedical.com]
Alkaline Phosphatase Increased
  • phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Elevated hepatic transaminase High liver enzymes 0002910 Erysipelas 0001055 Malabsorption Intestinal malabsorption 0002024 Showing of 25 Last updated: 5[rarediseases.info.nih.gov]
Polyps
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • What are the treatments for Aagenaes Syndrome? Aagenaese Syndrome doesn’t have a treatment option available. Most treatment efforts focus on specific symptoms of the disease.[patientworthy.com]
  • Readers will come away with a full overview of the diagnosis and treatment of cholestatic liver diseases.[books.google.com]
  • Treatment - Aagenaes syndrome Not supplied. Resources - Aagenaes syndrome[checkorphan.org]
  • New treatments, such as the development of the farnesoid X receptor agonists for the treatment of PBC, are highlighted. Current guidelines and areas of uncertainty are also covered.[books.google.com]

Prognosis

  • CONCLUSIONS: Compared with that for other types of hereditary neonatal cholestasis, patients with LCS1 have a relatively good prognosis. More than 50% can expect a normal life span.[ncbi.nlm.nih.gov]
  • Retrospectively, it appeared that those with remission of liver disease by about 2 to 2.5 years of age showed a better prognosis.[checkorphan.org]
  • […] possibilities in the overall prognosis of Aagenaes syndrome.[streetdirectory.com]

Etiology

  • Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known.[howlingpixel.com]
  • .), etiology and pathophysiology (what causes it), signs and symptoms, associated findings, diagnosis, treatment, and prognosis. Answer: Trisomy 21 Trisomy 21 is the more clinical way of referring to Down Syndrome.[thatsanswer.com]
  • ETIOLOGIC PROFILE OF NEONATAL CHOLESTASIS IN INDIA Etiologic Factor N-1008* (%) N-420#(%) Obstructive causes Biliary atresia 34 30 Choledochal cysts 4 5 Hepatocellular causes Infections 17 18 Metabolic causes 4 12 Miscellaneous 2 3 Unknown etiology 30[slideshare.net]
  • Agrin accumulates in the liver Page 19: Molecular mechanisms controlling bi Page 22 and 23: Etiology and pathogenesis of biliar Page 25 and 26: Special Lecture IFuture development Page 27 and 28: Pancreatic carcinoma Page 29 and 30: 3.[yumpu.com]
  • Unsure etiology deficient stomach musculature cryptoorchidism urinary tract anomalies m f. Gingival fibromatosis with prunebelly syndrome. Jun 13, 2012 definition of syndrome, prune stomach.[sharonkaram.com]

Epidemiology

  • Epidemiology and Demographics The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the U.S. 2.[wikidoc.org]
  • There are many good online resources about VACTERL syndrome, its epidemiology (how many people have it, etc.), etiology and pathophysiology (what causes it), signs and symptoms, associated findings, diagnosis, treatment, and prognosis.[thatsanswer.com]
  • Prune stomach syndrome historical past, hassle, epidemiology. · prune stomach syndrome is likewise known as eagle issues incompatible with existence stressed with prune belly syndrome has been termed prune belly.[sharonkaram.com]
  • Incidence Western epidemiology: – Affects one in 2500 live births India: 19% to 33% of all chronic liver diseases – Hepatocellular causes - 45% to 69% – Obstructive causes - 19% to 55% – Idiopathic - 20 to 30% IAP Recommendations NASPGHAN 5.[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q 1,2.[wikidoc.org]
  • 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]
  • .), etiology and pathophysiology (what causes it), signs and symptoms, associated findings, diagnosis, treatment, and prognosis. Answer: Trisomy 21 Trisomy 21 is the more clinical way of referring to Down Syndrome.[thatsanswer.com]
  • Bangstad et al. (1989) suggested that a generalized cell membrane defect was responsible for the pathophysiologic abnormality in these patients.[omim.org]
  • Pathophysiologic and anesthetic correlations of the. Pathophysiologic and anesthetic correlations of the prunebelly syndrome joyce p. Holder, a variety of numerous types and sizes of. Icd10 bankruptcy xvii congenital malformations,.[sharonkaram.com]

Prevention

  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • Prevention - Aagenaes syndrome Not supplied. Diagnosis - Aagenaes syndrome Not supplied.[checkorphan.org]
  • Surgery may be needed for: Inguinal hernia Cleft lip or palate Undescended testicles Prevention There is no known way to prevent Aarskog syndrome.[winchesterhospital.org]
  • Although this may be attributed to the proper treatment and care provided, the interfamilial heterogeneity cannot be excluded as these measures do not seem to prevent liver disease from taking a severe course 3 .[journals.lww.com]
  • Although this may be attributed to the proper treatment and care provided, the interfamilial heterogeneity cannot be excluded as these measures do not seem to prevent liver disease from taking a severe course 3.[journals.lww.com]

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