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Lysosomal acid lipase deficiency(CESD)

MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
Synonyms: CHOLESTEROL ESTER HYDROLASE DEFICIENCY; Cholesteryl ester storage disease; LAL DEFICIENCY; Wolman Disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
autosomal recessive
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Source: Orphanet
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
SNOMED CT: Wolman's disease (82500001); Primary familial xanthomatosis with adrenal calcification (82500001); Familial visceral xanthomatosis (82500001); LIPA deficiency (82500001); Lysosomal acid lipase deficiency (82500001); Deficiency of cholesterol esterase AND triacylglycerol lipase (82500001); Wolman xanthomatosis (82500001); Primary familial xanthomatosis (82500001); Xanthomatosis, familial (238074007); Wolman disease (82500001); Acid esterase deficiency (82500001); Acid lipase deficiency (82500001)
 
Gene (location): LIPA (10q23.31)
OMIM®: 278000
Orphanet: ORPHA75233

Definition

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001). [from OMIM]

Additional description

From GHR
Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen.Infants with Wolman disease are healthy and active at birth but soon develop signs and symptoms of the disorder. These may include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.  http://ghr.nlm.nih.gov/condition/wolman-disease

Clinical features

Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Atherosclerosis
MedGen UID:
13948
Concept ID:
C0004153
Disease or Syndrome
Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. Atherosclerosis can lead to serious problems, including. -Coronary artery disease. These arteries supply blood to your heart. When they are blocked, you can suffer angina or a heart attack. -Carotid artery disease. These arteries supply blood to your brain. When they are blocked you can suffer a stroke. -Peripheral arterial disease. These arteries are in your arms, legs and pelvis. When they are blocked, you can suffer from numbness, pain and sometimes infections. Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency. A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. Lifestyle changes can also help. These include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. . NIH: National Heart, Lung, and Blood Institute.
Disorder of adrenal gland
MedGen UID:
155
Concept ID:
C0001621
Disease or Syndrome
The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include. -Genetic mutations. -Tumors including pheochromocytomas. -Infections. -A problem in another gland, such as the pituitary, which helps to regulate the adrenal gland. -Certain medicines. Treatment depends on which problem you have. Surgery or medicines can treat many adrenal gland disorders. NIH: National Institute of Child Health and Human Development.
Adrenal calcification
MedGen UID:
78785
Concept ID:
C0271750
Disease or Syndrome
Calcification within the adrenal glands.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.
Vacuolated lymphocytes
MedGen UID:
332307
Concept ID:
C1836855
Finding
The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
MedGen UID:
383940
Concept ID:
C1856560
Finding
The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Decrease in existing BODY WEIGHT.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Reduced consciousness/confusion
MedGen UID:
65877
Concept ID:
C0234428
Sign or Symptom
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Pulmonary hypertension
MedGen UID:
9376
Concept ID:
C0020542
Finding
Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. . Symptoms of PH include. -Shortness of breath during routine activity, such as climbing two flights of stairs. -Tiredness. -Chest pain. -A racing heartbeat. -Pain on the upper right side of the abdomen. -Decreased appetite. As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. . There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Ascites
MedGen UID:
416
Concept ID:
C0003962
Finding
Accumulation of fluid in the peritoneal cavity.
Congenital hepatic fibrosis
MedGen UID:
40449
Concept ID:
C0009714
Congenital Abnormality
Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized histologically by defective remodeling of the ductal plate (ductal plate malformation; DPM), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts. CHF may or may not be associated with macroscopic cystic dilatation of the intrahepatic bile ducts. Clinical findings include enlarged, abnormally shaped liver, relatively well-preserved hepatocellular function, and portal hypertension (PH) resulting in splenomegaly, hypersplenism, and gastroesophageal varices. Pulmonary hypertension (portopulmonary hypertension) and vascular shunts in the pulmonary parenchyma (hepatopulmonary syndrome), complications of PH, can also be seen rarely. Most frequently CHF is associated with ciliopathies (disorders of the primary cilia) that have associated renal disease, the so-called hepatorenal fibrocystic diseases (FCDs). Although the hepatorenal FCDs are currently classified by phenotype, it is likely that gene-based classification will be quite different in the future because of the tremendous genetic and phenotypic overlap between these disorders.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Finding
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Liver Cirrhosis
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Nausea and vomiting
MedGen UID:
45015
Concept ID:
C0027498
Sign or Symptom
Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines. . For vomiting in children and adults, avoid solid foods until vomiting has stopped for at least six hours. Then work back to a normal diet. Drink small amounts of clear liquids to avoid dehydration. Nausea and vomiting are common. Usually, they are not serious. You should see a doctor immediately if you suspect poisoning or if you have. -Vomited for longer than 24 hours. - Blood in the vomit. - Severe abdominal pain . - Headache and stiff neck . - Signs of dehydration, such as dry mouth, infrequent urination or dark urine .
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Hepatic failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
severe inability of the liver to function normally, as evidenced by severe jaundice and abnormal levels of ammonia, bilirubin, alkaline phosphatase, glutamic oxaloacetic transaminase, lactic dehydrogenase, and reversal of the albumin/globulin ratio.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of fibrosis of the liver tissue.
Protuberant abdomen
MedGen UID:
340750
Concept ID:
C1854928
Finding
A thrusting or bulging out of the abdomen.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Vacuolated lymphocytes
MedGen UID:
332307
Concept ID:
C1836855
Finding
The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
MedGen UID:
383940
Concept ID:
C1856560
Finding
The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.
Body Temperature Changes
MedGen UID:
626
Concept ID:
C0005904
Sign or Symptom
An abnormality of temperature homeostasis.
Hypercholesterolaemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Adrenal calcification
MedGen UID:
78785
Concept ID:
C0271750
Disease or Syndrome
Calcification within the adrenal glands.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are . - Allergic reactions. - Eczema. - Dry skin. - Insect bites and stings. - Irritating chemicals. - Parasites such as pinworms, scabies, head and body lice. - Pregnancy. - Rashes. - Reactions to medicines. To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention. .
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLysosomal acid lipase deficiency
Follow this link to review classifications for Lysosomal acid lipase deficiency in Orphanet.

Suggested Reading

PubMed

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Recent clinical studies

Etiology

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Hůlková H, Elleder M
Histopathology 2012 Jun;60(7):1107-13. doi: 10.1111/j.1365-2559.2011.04164.x. PMID: 22621222
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Diagnosis

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Therapy

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Clinical prediction guides

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N Engl J Med 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365. PMID: 26352813
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J Hepatol 2013 Sep;59(3):543-9. Epub 2013 Apr 25 doi: 10.1016/j.jhep.2013.04.016. [Epub ahead of print] PMID: 23624251Free PMC Article
Bernstein DL, Hülkova H, Bialer MG, Desnick RJ
J Hepatol 2013 Jun;58(6):1230-43. Epub 2013 Feb 26 doi: 10.1016/j.jhep.2013.02.014. [Epub ahead of print] PMID: 23485521
Guénard F, Houde A, Bouchard L, Tchernof A, Deshaies Y, Biron S, Lescelleur O, Biertho L, Marceau S, Pérusse L, Vohl MC
Obesity (Silver Spring) 2012 Oct;20(10):2075-82. Epub 2012 Mar 7 doi: 10.1038/oby.2012.52. [Epub ahead of print] PMID: 22395809
Desai PK, Astrin KH, Thung SN, Gordon RE, Short MP, Coates PM, Desnick RJ
Am J Med Genet 1987 Mar;26(3):689-98. doi: 10.1002/ajmg.1320260324. PMID: 3565483

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