CYSTIC FIBROSIS-RELATED CHOLESTASIS

What is cystic fibrosis-related cholestasis?
Cystic fibrosis (CF) is an autosomal recessive disease (an inherited disorder whereby the person inherits a pair of dysfunctional genes). It is characterised by increased thickness of fluid secretions of the airway’s system, the pancreas and the liver. It also causes damage to the glands of other major organs such as digestive and reproductive tract.

Damage to the liver and bile system causes a condition known as cystic fibrosis-related cholestasis. This results in interruption to the normal bile acid flow. The substance, bile, helps in the digestion of fats in your diet and aids in the excretion of drugs, ions and endogenously produced compounds from the body. Destruction of this duct results in build up of the bile substances in the liver and leads to the destruction of the liver tissue. In about 2% of patients with cystic fibrosis, the liver is clinically relevant affected.

What causes cystic fibrosis-related cholestasis?
The build up of excess fluid causes obstruction and plugs to form.

The development of liver disease, the second most common cause of death in CF, is thought to be due to the accumulation of sticky secretions in the bile ducts leading from the liver to the intestine. The ducts become clogged, resulting in an elevation of bilirubin in the bloodstream (jaundice), and causing liver cirrhosis and liver failure.

What are the signs and symptoms of cystic fibrosis-related cholestasis?
Cystic fibrosis produces abnormalities in the bile ducts that over long or short periods of time can present with classical signs and symptoms of cholestasis:

An abnormal profile of the cholestatic enzymes (increased concentrations)

Are there other diseases associated with cystic fibrosis-related cholestasis?
CF causes obstruction and compromises the functionality of the following glands:

The airways system seems to be the most commonly affected body system. Excess mucus plugs the airways and leads to recurrent infections. Thus, CF patients suffer from a number of organ function insufficiencies and complications. Requiring additional management strategies such as physiotherapy, psychological support and diet therapy.

How is CF and cystic fibrosis-related cholestasis diagnosed?
Cystic fibrosis-related cholestasis is usually brought to the attention of the physicians during routine health checkup or blood tests. The diagnosis of the condition, CF, itself is based on a sweat test. This is because this genetic disease is characterised by an abnormal excess of salt secretion. Genetic analysis of blood may also be carried out to confirm this condition. The diagnosis of cystic fibrosis-related cholestasis is generally based on clinical and laboratory features such as abnormal blood test results.

What is the prognosis in term of CF and cystic fibrosis-related condition?
The prognosis of CF has improved steadily over the past 5 decades, mainly because of aggressive treatment before the onset of irreversible pulmonary changes. The course, largely determined by the degree of pulmonary involvement, varies greatly. However, deterioration is inevitable, leading to debilitation, usually from a combination of respiratory complications, rather than the cholestatic condition itself.

What are the treatment/management options? Can cystic fibrosis-related cholestasis be treated?
At present there is no cure for CF - the condition itself. However, better treatments can help people with CF-related cholestasis to control their cholestatic symptoms and lead active and fulfilling lives.

Various medical and dietary treatments are available to treat the cystic fibrosis-related cholestasis, and alleviate their symptoms. For further advice on your health, your condition or your medication, please speak to your doctor.

Where can I find more information about this condition or support organisations?
Additional information is available from the following website(s):