Presentation
However, we here describe the clinical and biochemical presentation of a family with FED who are of Dutch descent. The proposition presented with HDL deficiency and corneal opacity. [ncbi.nlm.nih.gov]
Immune System
- Splenomegaly
FED is distinguished from familial LCAT deficiency (FLD) by the lack of anemia, splenomegaly, and renal insufficiency as well as normal or increased LDL-C. [ncbi.nlm.nih.gov]
Hepatomegaly, splenomegaly and lymphadenopathy are generally not present. [orpha.net]
LCAT deficiency does not have hepatomegaly, splenomegaly or enlarged lymph glands as found in another disorder of lipoprotein metabolism with low HDL levels known as Tangier disease ( 205400 ). [disorders.eyes.arizona.edu]
Less common symptoms include atherosclerosis, hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and lymphadenopathy. [4] Fish-eye disease is less severe and most commonly presents with impaired vision due to corneal opacification. [en.wikipedia.org]
Rarely, signs of atherosclerosis, hepatomegaly (liver enlargement), splenomegaly (spleen enlargement), and lymphadenopathy have also been reported. [xpertdox.com]
Liver, Gall & Pancreas
- Hepatomegaly
Hepatomegaly, splenomegaly and lymphadenopathy are generally not present. [orpha.net]
LCAT deficiency does not have hepatomegaly, splenomegaly or enlarged lymph glands as found in another disorder of lipoprotein metabolism with low HDL levels known as Tangier disease ( 205400 ). [disorders.eyes.arizona.edu]
Less common symptoms include atherosclerosis, hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and lymphadenopathy. [4] Fish-eye disease is less severe and most commonly presents with impaired vision due to corneal opacification. [en.wikipedia.org]
Rarely, signs of atherosclerosis, hepatomegaly (liver enlargement), splenomegaly (spleen enlargement), and lymphadenopathy have also been reported. [xpertdox.com]
[…] concentration Decreased circulating high-density lipoprotein cholesterol Decreased HDL cholesterol Low HDL-cholesterol [ more ] 0003233 5%-29% of people have these symptoms Angina pectoris 0001681 Atherosclerosis Narrowing and hardening of arteries 0002621 Hepatomegaly [rarediseases.info.nih.gov]
Cardiovascular
- Thrombosis
Arteriosclerosis, Thrombosis, and Vascular Biology, 17 (7), 1382-1391. [iths.pure.elsevier.com]
Find articles by Kuivenhoven, J. in: JCI | PubMed | Google Scholar Department of Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, Academic Medical Centre, University of Amsterdam, The Netherlands. [jci.org]
Arteriosclerosis, Thrombosis, and Vascular Biology. 25 (9): 1972–1978. doi : 10.1161/01.ATV.0000175751.30616.13. ISSN 1079-5642. PMID 15994445. ^ a b Koster, H; Savoldelli, M; Dumon, M. F.; Dubourg, L; Clerc, M; Pouliquen, Y (1992). [en.wikipedia.org]
Eyes
- Corneal Opacity
The proposition presented with HDL deficiency and corneal opacity. [ncbi.nlm.nih.gov]
Lipid deposition in the cornea is responsible for the corneal opacities and may cause significant reduction in vision. However, opacities are concentrated near the limbus. [disorders.eyes.arizona.edu]
Urogenital
- Hematuria
Symptoms of FLD include nephropathy, renal insufficiency, proteinuria, hematuria, anemia and cloudy corneas. Cholesterol metabolism in the plasma is significantly altered resulting in increased cholesterol to cholesterol ester ratios. [grantome.com]
Workup
Serum
- Hypertriglyceridemia
A complete loss of function of the LCAT enzyme is referred to as classic LCAT deficiency and, besides reduced HDL concentration and corneal opacity, is associated with a modest hypertriglyceridemia as well as glomerulosclerosis. [medizinische-genetik.de]
It is essential to have regular check-ups and consult a well-experienced endocrinologist who will prescribe an optimal diet and treat abnormalities regarding hypertriglyceridemia or low HDL. [ic.steadyhealth.com]
Patients may present with HDL deficiency, corneal opacification, hemolytic anemia, hypertension, hypertriglyceridemia, and proteinuria. [emedicine.medscape.com]
[…] lymph nodes 0002716 Splenomegaly Increased spleen size 0001744 Visual impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Hypertriglyceridemia [rarediseases.info.nih.gov]
- Normocytic Anemia
Laboratory findings in familial LCAT deficiency: Normochromic normocytic anemia with anisopoikilocytosis, target cells, stomatocytes, and hematologic evidence of hemolysis may be present; proteinuria is commonly detected during the second or third decade [kidneypathology.com]
Signs and symptoms [ edit ] Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and renal failure. [en.wikipedia.org]
Treatment
You can use this treatment in combination with antibiotics and water changes. [aquariumlife.net]
Management and treatment Treatment is symptomatic. Severe visual impairment may require corneal transplantation. Prognosis Morbidity is related to progressive corneal opacification, which may lead to visual impairment. [orpha.net]
Treatment for LCAT Deficiency Patients suffering from LCAT deficiency need to be treated for their anemia, renal insufficiency and rapidly developing atherosclerosis. [ic.steadyhealth.com]
Treatment Options for LCAT Deficiency As of yet, there aren't any specific therapies available that can treat LCAT deficiency. [healthery.com]
Depending on the cause, there are different types of medications and bath treatments that can help. [caringpets.org]
Prognosis
Prognosis Morbidity is related to progressive corneal opacification, which may lead to visual impairment. The documents contained in this web site are presented for information purposes only. [orpha.net]
Disease prognosis is variable and end-stage renal disease is the most complicated outcome. Incidence: The incidence of Norum disease is unknown. [xpertdox.com]
Once it gets this far, the prognosis is extremely poor. I've never seen a fish with sunken eyes to survive. Never. If the fishes' head is shaped like an arrow head, and it's shimmying in the water, and the fins are clamped, the fish is a goner. [koicrisis.com]
However, other fish may require antibiotics and have a worse prognosis. Recently introduced fish that exhibited signs within a matter of minutes have the worst prognosis of all, and there is often no cure for trauma to the swim bladder. [carolinafishtalk.com]
Prognosis [ edit ] Renal failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause of morbidity is visual impairment due to corneal opacity. [en.wikipedia.org]
Etiology
Our data are in line with the hypothesis that a key event in the etiology of FLD is the loss of distinct lipoprotein fractions. [ncbi.nlm.nih.gov]
Etiology 18 different mutations in the LCAT gene (16q22.1), encoding the LCAT enzyme which catalyzes the formation of cholesterol esters in lipoproteins, have been identified in FED cases. [orpha.net]
Epidemiology
Epidemiological as well as biochemical evidence of recent years has established that a low plasma level of high density lipoprotein-cholesterol is a predictor for the risk of coronary artery disease. [ncbi.nlm.nih.gov]
Summary Epidemiology Fish eye disease is very rare; about 30 cases have been reported to date. Fish eye disease seems to be less common than familial LCAT deficiency (see this term). [orpha.net]
Abstract Epidemiological as well as biochemical evidence of recent years has established that a low plasma level of high density lipoprotein-cholesterol is a predictor for the risk of coronary artery disease. [pnas.org]
Pathophysiology
The rarity of this disorder has limited advances in our understanding of the pathophysiology of the HDL deficiency. However, we here describe the clinical and biochemical presentation of a family with FED who are of Dutch descent. [ncbi.nlm.nih.gov]
[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]
LCAT Deficiency Pathophysiology Since people suffering from this type of deficiency lack a specific enzyme, they are not able to deal with excess of cholesterol in their bodies. [ic.steadyhealth.com]
[…] found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of cholesterol that it resembled a boiled fish. [5] If an individual only carry one copy of the mutated gene, they typically do not show symptoms. [6] Pathophysiology [en.wikipedia.org]
Prevention
Pop Eye Prevention No Prevention? Clean water and good water condition will help. Pop-eye can also be caused by hormonal imbalance, for which there is no cure. [fishdeals.com]
Check these related articles Preventing Fish Diseases Symptoms and Treatments of Common Fish Diseases [aquariumlife.net]
Love to you, Flo Salth Baths For Goldfish | Tips and Benefits Goldfish Diseases | How To Diagnose, Cure And Prevent Essential Goldfish Care Guidelines Feeding Goldfish The Healthy Way | Benefits and Tips [goldfish2care4.com]
[…] opportunistic as discussed earlier, prevention is VERY key to stopping this bacterium. [aquarium-pond-answers.com]
Use Forma-Green in the water to prevent fungus from attacking the ulcerations. [nationalfishpharm.com]