chylomicron retention disease

Chylomicron Retention Disease (CRD) Overview

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary disorder that affects the body's ability to absorb fats, cholesterol, and certain vitamins from food. This condition is characterized by severe lipid malabsorption, leading to various symptoms.

Key Features of CRD:

• Malnutrition: The inability to properly absorb fats and fat-soluble vitamins leads to malnutrition.
• Failure to Thrive: Children with CRD often experience failure to gain weight or grow at the expected rates.
• Digestive Symptoms: Vomiting, diarrhoea, and abdominal swelling are common digestive issues associated with this disease.
• Rare Hereditary Disorder: CRD is an autosomal-recessive disorder, meaning it is inherited from both parents in a recessive pattern.

Other Relevant Information:

• The condition impairs the normal release of chylomicrons in the intestine, leading to severe manifestations.
• Mutations in the SAR1B gene are associated with CRD.
• Symptoms can improve within a few days or weeks with a low-fat diet.

References:

[2] Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited. [7] Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited. [7] [3] Chylomicron retention disease (CRD) is a rare, autosomal-recessive disease with severe lipid malabsorption, failure to thrive, and diarrhoea. [4] Chylomicron retention disease (CRD) is an autosomic recessive disorder, in which intestinal fat malabsorption is the main cause of diverse severe manifestations... [8] Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in SAR1B prevent the release of chylomicrons in the intestine...

Chronic Malabsorptive Diarrhea, Steatorrhea, and Failure to Thrive

Chylomicron retention disease is characterized by several key signs and symptoms, which typically manifest in infancy or early childhood. These include:

• Chronic malabsorptive diarrhea: Diarrhea that results from the poor absorption of fats [4].
• Steatorrhea: Abnormal stools, often foul-smelling, due to the presence of excess fat [4].
• Failure to thrive: Slow growth and weight gain in affected children [1][6].
• Abdominal distension: Swelling of the abdomen, which can be a sign of malabsorption and gastrointestinal issues [2][3].
• Vomiting: Regurgitation, which can occur due to the body's attempt to expel undigested fats [3].

These symptoms are often detected early in life, and if left untreated, can lead to severe consequences. It is essential for parents or caregivers to seek medical attention if they suspect that their child may be experiencing these symptoms.

References: [1] Aug 1, 2018 — Affected children have slow growth and weight gain, frequent (chronic) diarrhea, and foul-smelling stools (steatorrhea). They also have reduced ... [2] Features include an abnormal lipid profile, failure to thrive, chronic malabsorptive diarrhea, vomiting and abdominal distension in early infancy (1-6 months), ... [3] by H Ferreira · 2018 · Cited by 13 — The first symptoms, which most frequently occur are the gastrointestinal symptoms, namely diarrhea, steatorrhea, vomiting and abdominal ... [4] Signs and symptoms · Chronic Malabsorptive Diarrhea- Diarrhea that results from the poor absorption of fats · Steatorrhea- Abnormal stools, often foul smelling, ... [6] Aug 1, 2018 — Chylomicron retention disease begins in infancy or early childhood. Affected children have slow growth and weight gain, frequent (chronic) ...

Diagnostic Tests for Chylomicron Retention Disease

Chylomicron retention disease, also known as abetalipoproteinemia or Bassen-Kornzweig syndrome, is a rare inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food. The diagnosis of this condition can be made through a combination of clinical evaluation, laboratory tests, and genetic analysis.

Clinical Evaluation

The diagnosis of chylomicron retention disease is based on a history of chronic diarrhea with fat malabsorption and an abnormal lipid/fat profile, which can be identified through blood tests [5]. Other symptoms may include failure to thrive in early infancy, steatorrhea (fatty stools), and neurological abnormalities [8].

Laboratory Tests

The following laboratory tests are used to diagnose chylomicron retention disease:

• Blood tests: To measure the levels of lipids, including cholesterol and triglycerides, in the blood. Extremely low levels of these lipids may indicate chylomicron retention disease [7].
• Upper endoscopy and histology: To examine the small intestine for signs of malabsorption and inflammation.
• Complete blood count (CBC): To evaluate the patient's overall health and detect any abnormalities in red or white blood cell counts.

Genetic Analysis

Next-generation sequencing (NGS) tests are available to identify genetic mutations associated with chylomicron retention disease. These tests can be used to confirm a diagnosis of this condition, especially when there is a family history [6].

Other Diagnostic Tests

In some cases, additional diagnostic tests may be performed to rule out other conditions that may present with similar symptoms. These tests may include:

• Kidney and liver function tests: To evaluate the patient's overall health and detect any abnormalities in kidney or liver function.
• Acid-base balance test: To assess the patient's acid-base status.

It is essential to consult a healthcare professional for an accurate diagnosis and treatment plan.

Chylomicron retention disease (CRD) is a rare autosomal recessive disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food [5]. The treatment for CRD includes fat-soluble vitamin supplements and large amounts of vitamin E [1][2].

Specifically, the treatment regimen may involve:

• Vitamin A: 15,000 IU/d (adjust according to serum levels) [3]
• Vitamin D: 800-1000 IU/d [3]
• Vitamin E: a liposoluble form at a dosage of 50 mg/kg/d is recommended [6]

In addition to vitamin supplements, patients with CRD may also require nutritional support to manage malnutrition and growth failure [9]. A high-dose oral fat-soluble vitamins regimen

Chylomicron retention disease (CRD) has several differential diagnoses that can be considered in cases where CRD is suspected but not confirmed. Some of the key differential diagnoses include:

• Abetalipoproteinemia (ABL): This is a rare inherited disorder characterized by the absence or near-absence of apolipoproteins B-48 and B-100, leading to impaired lipid absorption and transport. ABL can present with similar symptoms to CRD, including severe lipid malabsorption, failure to thrive, and diarrhea [7].
• Hypobetalipoproteinemia (HBL): This is a rare inherited disorder characterized by low levels of apolipoproteins B-48 and B-100 in the blood. HBL can also present with impaired lipid absorption and transport, similar to CRD [7].
• Other genetic disorders: There are several other genetic disorders that can cause impaired lipid absorption and transport, including familial hypobetalipoproteinemia and chylomicron retention disease itself.

The differential diagnosis of CRD is typically based on a combination of clinical presentation, laboratory results, and genetic testing. In some cases, further diagnostic tests such as upper endoscopy and histology may be necessary to confirm the diagnosis [4].

It's worth noting that CRD is a rare autosomal recessive disorder with around 40 cases reported worldwide, making it relatively difficult to diagnose compared to other conditions [8]. However, with advances in genetic testing and diagnostic techniques, accurate diagnosis of CRD and its differential diagnoses has become more feasible.

References: [4] Peretti N. (2010) - cited in context as #4 [7] Doya LJ. (2021) - cited in context as #3 and #9 [8] Doya LJ. (2021) - cited in context as #3