Hyperhomocysteinemia - ICD 10, Definition, Symptoms, Causes, Complications, Treatment

Hyperhomocysteinemia is a heterogeneous disease characterized by elevated plasma levels of the amino acid homocysteine (HCY). Severe Hyperhomocysteinemia (> 100 nmol / l) is caused almost exclusively by hereditary deficiency of homozygous cystatinone-13-synthase, an enzyme involved in the degradation of homocysteine . The prevalence of heterozygous form in the general population is 0.3 to 1.4%. Mild (16-24 itmol / L) to moderate (25-100 itmol / L) Hyperhomocysteinemia can be seen in a minority of patients due to homozygous for inherited mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) other enzyme involved in metabolism of homocysteine , resulting in a thermolability of enzyme.

Increased plasma homocysteine levels are an important risk factor not only for venous thrombosis (eg deep vein thrombosis, pulmonary embolism) but also for arterial thrombosis (for example, stroke, myocardial infarction), hyperhomocysteinemia may be inherited, or might be the result of nutritional deficiency of folic acid and to a lesser extent, vitamins B12 and B6, because these vitamins are co-factors in homocysteine metabolism.

For unknown reasons, elderly people, people with kidney disease, and smokers may have high levels of homocysteine in the absence of dietary deficiency of these vitamins. While simple measurement of fasting plasma homocysteine can be a useful screening testing those people with genetically inherited hyperhomocysteinemia and those with vitamin B6 deficiency may have normal or slightly elevated levels.

A more sensitive method is to obtain a second measurement of 4 hours after the patient consumes methionine. Hyperhomocysteinemia was found twice as often when using this method. In hyperhomocysteinemia, the endothelial lining of the vessel wall is empty, which can precipitate the formation of a thrombus. Patients who are found to be suffering from hyperhomocysteinemia receive folic acid, vitamin B6, vitamin B12 and supplements and should understand the reasons for their use.

Hyperhomocysteinemia - ICD 10, Definition, Symptoms, Causes, Complications, Treatment


Hyperhomocysteinemia Symptoms


Hyperhomocysteinemia symptoms vary in patient to patient depending upon the elevated level of homocysteinemia and other associated health conditions. Clinically following some commonly reported symptoms of hyperhomocysteinemia are
  • Thrombosis
  • Micoralbuminuria
  • Degradation of collagen
  • Mental irritability
  • Malfunctioning of cognitive system
  • Dementia like condition
  • Bone fractures due to low density
  • Cardiovascular events

Hyperhomocysteinemia Causes


About 90% cases of hyperhomocysteinemia are due to genetic mutations.  People who have cases of hyperhomocysteinemia in their family history are more prone to get hyperhomocysteinemia at some stage of their lives. Howevere, some possible causes of hyperhomocysteinemia are deficinecy of B-complex vitamins such B1, B9 and B12. These vitamins are important to regulate the level of homecysteine.

Hyperhomocysteinemia Complications


A large number of epidemiological studies have shown that hyperhomocysteinemia is a common risk factor for myocardial infarction, stroke, peripheral arterial disease and venous thrombosis. It is still not fully understood, the pathophysiology by which high plasma concentration of homocysteine predisposes to cardiac issues.

Some researchers presumed that hyperhomocysteinemia causes vascular dysfunction while others suggest that hyperhomocysteinemia is a marker for another factor that increases the risk of cardiovascular disease. The uncertainty lies in the fact that hyperhomocysteinemia is caused by several genetic and nutritional factors, and it is unclear which of these factors adds to the risk of cardiovascular disease.

Hyperhomocysteinemia Treatment


Treatment of  hyperhomocysteinemia mainly depends upon the underlying cause due to which it occurs. Recent studies reveal that supplementation of Cyanocobalamin (Vitamin B12) is very beneficial in those who have high levels of homocysteine. Though, it does not directly brings down homocysteine levels but it works as co-factor in apthway that normalizes homocysteine level in the body.

Hyperhomocysteinemia ICD-10


Following code is used for hyperhomocysteinemia in ICD-10

E72.11--Endocrine, nutritional and metabolic diseases / Metabolic disorders / Other disorders of amino-acid metabolism--Billable
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