Goot, Hazeldine, Bentley et al. Elevated serum ferritin - what should a GP know. Australian Family Physician 2012; (12), 41945-949. Please click Here to link to article.
Bentley, Bell and Olynyk. Therapeutic Venesection at Australian Red Cross Lifeblood: Impact of the High Ferritin Application on Management of Hereditary Haemochromatosis. Australian Family Physician 2015; 44 (8) 589-592. Please click Here to link to article.
According to the new IDF definition, for a person to be defined as having the metabolic syndrome they must have:
(defined as waist circumference ≥ 94cm for Europid men and ≥ 80cm for Europid women, with ethnicity specific values for other groups)
Plus any two of the following four factors:
raised TG level: ≥ 150 mg/dL (1.7 mmol/L), or specific treatment for this lipid abnormality
reduced HDL cholesterol: < 40 mg/dL (1.03 mmol/L*) in males and < 50 mg/dL (1.29 mmol/L*) in females, or specific treatment for this lipid abnormality
raised blood pressure: systolic BP ≥ 130 or diastolic BP ≥ 85 mm Hg, or treatment of previously diagnosed hypertension
raised fasting plasma glucose (FPG) ≥ 100 mg/dL (5.6 mmol/L), or previously diagnosed type 2 diabetes
If above 5.6 mmol/L or 100 mg/dL, OGTT is strongly recommended but is not necessary to define presence of the syndrome.
* These values have been updated from those originally presented to ensure consistency with ATP III cutpoints
While the pathogenesis of the metabolic syndrome and each of its components is complex and not well understood, central obesity and insulin resistance are acknowledged as important causative factors.1–5
Central (abdominal) obesity
, easily assessed using waist circumference and independently associated with each of the other metabolic syndrome components including insulin resistance,2,6 is a prerequisite risk factor for the diagnosis of the syndrome in the new definition. Insulin resistance, which is difficult to measure in day to-day clinical practice, is not an essential requirement.
describes the combination of raised triglycerides (TG) and low concentrations of HDL-c together with elevated apolipoprotein B (ApoB), small dense LDL and small HDL particles, all of which are independently atherogenic,7 and which is commonly observed in patients with both type 2 diabetes and the metabolic syndrome. Low HDL-c and high TG levels are frequently found with insulin resistance, with or without http://labtestsonline.org/understanding/conditions/metabolic/
NAFLD is characterized by excess fat accumulation in the liver (>5% of the liver weight) in the absence of significant alcohol consumption or other identifiable cause of liver disease. It is the umbrella term for a spectrum of disease that ranges from simple steatosis to non-alcoholic steatohepatitis (NASH), fibrosis and cirrhosis in patients with normal or raised serum ALT (Alanine transaminase)
The presence of NAFLD is a strong predictor of the Metabolic syndrome (Met S) The incidence of NAFLD has been shown to be increased in adults with the Metabolic syndrome.
There is an association between high ferritin and NAFLD in apparently healthy obese individuals.
Haemochromatosis is an autosomal recessive gene disorder. The gene that controls haemochromatosis is known as HFE. There are two main mutations that cause hereditary haemochromatosis and are referred to as C282Y and H63D.
What is the difference between heterozygous, homozygous and compound heterozygous?
Heterozygous: having one copy of the abnormal HFE gene eg C282Y or H63D. Also known as a carrier of haemochromatosis. . One in 7 people have one abnormal HFE gene and are referred to as carriers and won't develop haemochromatosis.
Homozygous: Two copies of the same gene abnormality eg C282Y/C282Y which is associated with the highest risk of iron overload.
Compound heterozgygous: Having one C282Y and one H63D abnormal gene and is associated with less risk of iron overload than the homozygous C282Y.
What is the significance of C282Y and H63D?
The C282Y mutation is associated with the highest risk of iron overload in its homozygous form C282Y/C282Y
The H63D mutation is associated with a lower risk of iron overload in its Compound heterozygous form C282Y/H63D.
Although the HFE S65C mutation may lead to mild iron overload it is unlikely to be associated with clinically significant haemochromatosis.
90% not related to iron overload. Elevations of serum ferritin can be seen in the setting of inflammatory conditions such as rheumatoid arthritis, infection, various neoplastic and as a consequence of hepatocyte injury as ferritin is an acute phase reactant.
Metabolic hyperferritinaemia is the most common cause and is related to glucose and lipid metabolism disorder. NAFL (Non-alcoholic fatty liver disease), insulin resistance and metabolic syndrome.
NAFLD includes the spectrum of hepatic steatosis (fatty liver), NASH (non-alcoholic steato-hepatitis), liver fibrosis and cirrhosis
Metabolic Syndrome criteria includes
High serum TG
Low HDL cholesterol
Raised blood pressure
Increased fasting BSL
NASH (Non-alcoholic steato-hepatitis) is the liver presentation of metabolic syndrome
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