Fibrosis – A Silent Attacker

23 January, 2018

Cystic fibrosis (CF) is the most common inherited disease in the developed world and affects the secretory glands – the mucus and sweat glands. People who have CF have two copies of the defective gene, with a copy inherited form each parent. The disease occurs by virtue of a single mutation on the CF gene on chromosome 7, called the Cystic Fibrosis Transmembrane Regulator (CFTR).

It’s a multi-organ disease that affects the lungs, liver, pancreas, intestines, sinuses and the sex organs. When the CFTR gene doesn’t work normally, the flow of water and salts in and out of the body cells gets affected, resulting in thick, sticky, glue-like mucus build-up. In normal individuals, the mucus is very thin and slippery and keeps the body running smoothly like a lubricant. But the thick mucus build-up in CF can plug tubes, ducts and airways over time and can often turn fatal, if not given urgent attention.

Sticky mucus build-up in the airways makes breathing a struggle and since germs also get trapped within it, it leads to frequent respiratory infections. CF can lead to formation of cysts (fluid-filled sacs) and fibrosis (scar tissue formation), hence the name cystic fibrosis.

Earlier on, CF was a terminal disease of childhood but with advances in medicine and technology, the life expectancy bar has been raised to over 30 years. Most CF disease patients die due to lung-related issues as this is a chronic, progressive and frequently fatal disease.

In the reproductive system, the presence of thickened mucus can lead to obstructions that affect the function and development of the sex organs. Some of the symptoms include delayed sexual development, irregular menstruation, absence or stopping of menstruation, inflamed cervix, infertility, sterility, etc.

For most men with CV, there is an absence of the vas deferens tube that carries sperms from the testes to the urethra, a condition known as CBVD. About 95% of men with CV have this defect, making it difficult for them to become biological fathers. Though they do make sperms, they cannot be ejaculated out due to the absence of the connecting tube. When evaluating males with infertility, a possible diagnosis for CF should always be kept in mind. In some cases however, surgical intervention for harvesting sperms as part of fertility treatments, can help such men become fathers.

Women too experience the problem of thickened cervical mucus which makes conception difficult. However, the scenario isn’t as bad for women, as quiet a few of them do manage to get pregnant and go on to give birth. However, they need to be carefully monitored during the pregnancy due to their special health conditions and possibility of complications.

If you have CF and are planning on becoming a parent, do discuss with your doctor first on what to expect.