Haemochromatosis | Symptoms, Diagnosis and Treatment of Haemochromatosis

Haemochromatosis | Symptoms, Diagnosis and Treatment of Haemochromatosis .

Haemochromatosis Definition

Haemochromatosis also called as iron overload syndrome is defined as a clinical condition where iron overload, primary or secondary, leads to affection of various organs such as liver, pancreas, heart, skin and endocrine glands.

Classification of Haemochromatosis

A.  Hereditary (idiopathic, primary or genetic)

It is an inherited defect of iron metabolism and is transmitted as autosomal recessive trait.

B.  Secondary

Associated with alcoholic liver disease.

Post porta-caval shunt.

Hemolytic anemia.

Dietary or medicinal iron excess.

Hereditary atransferrinaemia.

Pathogenesis:

Although iron is essential for cell function its overload is toxic and causes cell deaths.

Liver is major site of iron storage and is prone therefore to more injury.

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Clinical Features of Haemochromatosis

They depend on the organs involved.

Common Symptoms of Hereditary Haemochromatosis

Arthralgia (bone pain).

Weakness and lethargy.

Abdominal pain.

Impotence and amenorrhea.

Pigmentation.

Congestive heart failure; (edema and palpitation) and

Weight loss.

Common Signs of Hereditary Haemochromatosis

Liver swelling (hepatomegaly).

Arthritis.

Skin pigmentation and free wrinkled skin.

Testicular atrophy.

Cardiac failure and or arrhythmias.

Hepatic or liver manifestations

Liver is enlarged and cirrhosis is present.

Liver enzymes are elevated.

Hepatoma develops in 35% of patients.

Hepatitis-B or hepatitis-C is positive in2/3rd of patients.

Cardiac manifestations

Iron is predominantly accumulated in myocardial cells particularly ventricular tissue leading to conduction defects and arrhythmias.

Endocrine manifestations

They include diabetes mellitus, hypogonadism, hypothyroidism and adrenal hypo-function.

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Arthropathy (related to bones and muscles)

It is often the presenting feature present in approximately 25-75% of patients.

It involves

2nd and 3rd metacarpal joints.

Proximal inter-phalange joints.

Knees.

Hips.

Wrists.

Back, neck and shoulders.

Abdominal manifestations

Sometimes, pain in epigastria and right upper quadrant is an initial finding in patients with hereditary haemochromatosis.

Diagnosis of  Haemochromatosis

Serum iron and ferritin assay show increased serum iron and increased transferring saturation with increased serum ferritin levels is seen.

Liver biopsy is useful in finding the etiology and grading for its iron content.

Histology of liver- iron accumulation in liver leads to characteristic pattern of fibrosis which helps in diagnosis.

CT-scan and MRI- increased liver density on these tests correlates with liver iron and serum ferritin concentration. There are no false positive results and these tests are quite specific.

Treatment for Haemochromatosis

Phlebotomy- therapeutic phlebotomy is the most effective method of removing iron. The goal is to produce mild iron deficiency and carry out less frequent phlebotomy to prevent accumulation. Hemoglobin levels should be done weekly while iron studies every 3 months.

Chelation therapy- this therapy is not needed in uncomplicated, non-anemic hereditary haemochromatosis as phlebotomy is effective, cheap and safe. For patients needing blood transfusion for anemia, chelation is a must. Desferrioxamine and deferiprone are the only two clinically useful iron chelators.