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Monday February 24, 2020

Kelomycron syndrome –

Kilomicrone syndrome can be caused by a rare genetic disorder where the protein (the enzyme called lipoprotein (LpL) is little or missing, and it may also be caused by the absence of a second factor called apo C-II, which leads to the activity of the lipoprotein LpL LpL is usually found in fats and muscles, and it helps in getting rid of some fats. When LpL is not present, fat molecules called kilocomers accumulate in the blood, and this accumulation is called chylomicronemia.

Defects in the Apolipoprotein C2 and Apolipoprotein AV can also cause the syndrome, and it is more likely to happen when people who are predisposed to high triglycerides (such as those with combined hyperlipidemia or familial hyperlipidemia) develop diabetes, Obesity, or exposure to certain medications. [1]

What is Kilomicron syndrome?

Familial klemecron syndrome is sometimes known as lipoprotein lipoprotein (LPLD) or type 1 hyperdiagnosis, or familial hyperlipidemia, which is a serious genetic disease that prevents the body from breaking down fats, which transforms the color The patient’s blood is from red to milky white, and since it is rare, many health care providers have not heard of it or may not know how to diagnose it. [2]

Causes of kilomocrats syndrome

Kilomicron syndrome is caused by insufficient or impaired function of the lipoprotein enzyme (LPL), which is responsible for the metabolism of triglycerides, and the lipoprotein enzyme function is caused by any mutations in a gene that encodes lipoprotein lipase, or mutations in genes that help other necessary proteins For lipoproteins to work properly.

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Without lipoprotein lipase, triglycerides accumulate in the blood, triglycerides occur primarily in dietary fats called kilomocrats, and kilomocrats remain intact and accumulate in the plasma of patients with FCS, and accumulation of kilomerons can reduce blood flow through the pancreas, which leads To acute pancreatitis, and acute pancreatitis can lead to pancreatic damage or be fatal, in addition to other symptoms and complications.

Symptoms of Kilomicron syndrome

While acute abdominal pain is the most common symptom of kelomycron syndrome, the symptoms of FCS can be clinical, emotional, and cognitive and may include:

  • Abdominal pain on a daily basis.
  • Nausea.
  • Bloating.
  • Physical weakness.
  • Constipation and indigestion.
  • Acute pancreatitis.
  • Severe fatigue.
  • Poor memory .
  • Difficulty concentrating and solving problems.
  • Anxiety and fear about health.
  • Pink bruises on the body, arms, and legs.
  • An enlarged liver and spleen. [3]
  • Lipemia Retinalis, a condition in which the retinal veins of the eyes appear white.
  • Depression or feeling isolated.
  • Severe abdominal pain, including back pain.
  • Fatty deposits in the skin referred to as yellow tumors.

FCS patients may also have:

  • Blood color changed from red to white.
  • Very high levels of triglycerides in the body.
  • Feeling numbness in the feet or legs. [4]

Diagnosis of kilomocrats syndrome

Diagnosis is crucial to receive proper care, but given that the age of onset of symptoms may vary, diagnosis can be difficult, and there is no quick and simple test that shows whether or not a patient has KMS syndrome, but frequent episodes of pancreatitis, along with high levels Extremely from triglycerides, it may suggest that FCS is the cause, and in an attempt to diagnose the condition doctors may look for a history of abdominal pain or acute pancreatitis, which can be frequent. [4]

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Kilomicron syndrome is also diagnosed on the basis of triglyceride levels during fasting, at 750 mg / dL (8.5 mmol / L), which does not respond to standard lipid-lowering treatment (Brahm and Hegele 2015), and the doctor asks the patient about the history of recurrent abdominal pain Or pancreatitis, and the history of high-plasma triglyceride levels, triglyceride levels are measured in fasting from a blood sample, and when drawing blood, the plasma may have a milky appearance due to excess fat.

Diagnosis of kelomycron syndrome can be confirmed by genetic testing for mutations in a gene that encodes lipoprotein (LPL), or mutations in genes that denote other proteins needed for lipoproteins, and the most common mutations are apolipoprotein (C2APOC2), protein A5 () APOA5, the high-density lipoprotein glycosyl phosphotylidinitol bound to the high-density lipoprotein (HDL). [3]

Treating kelomycron syndrome

The management of kilomocrats syndrome begins by limiting daily fat intake to less than 10 to 15 grams of fat, and patients should avoid alcohol and reduce simple carbohydrates (such as those in soft drinks and sweets), and patients may also need to stop taking some medications that can Symptoms worsen, and no medication should be stopped without first talking to a healthcare provider.

If there is a suspicion that a family member has Kelomycron syndrome, he should immediately contact the doctor, so that he can diagnose the condition, and this is the most important step that can be taken to receive appropriate care and treatment.[4]

Although it is not possible to treat kelomycron syndrome, it can be controlled by following the following procedures:

  • Avoid alcohol.
  • Eat a healthy fat-free diet.
  • Reducing the intake of sugar and simple carbohydrates (such as those in fruits, soft drinks, or candy)
  • Eat small, frequent meals
  • Take appropriate nutritional supplements such as fatty acids, vitamins A, D, E, and K.
  • Eat foods that contain minerals and medium chain triglycerides.
  • Avoid drugs known to increase triglyceride levels that include diuretics, stimulants, estrogen, antihypertensive drugs, drugs that suppress the immune system, antidepressants, some heart medications, fish oil supplements, and the World Health Organization recommends patients adjust their medications only as directed the doctor.
  • There are currently no FDA approved treatments for kelomycron syndrome however, gene therapy may be an option for some patients.
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