Copper is for pots. Not in your brain or liver.Login to Health June 22, 2019 Liver Section 869 Views
For the gregarious, teenaged, copper – toned Nandita, everything was hunky dory, except for a recent bout of jaundice that meant catching up with missed college notes and classes. While jaundice can be one of the symptoms of a mild liver disease diagnosed in later years, there is also a possibility of inheriting an autosomal recessive trait which characterizes Wilson’s Disease.
No one in the Kolhatkar family had heard about this disorder, nor did they have an inkling of whether Nandita or her brother Arman, had a defective gene from both parents. Inheriting a single abnormal gene would have made them carriers, passing on the gene to the next generation.
Yellowing of eyes typically happens in case of jaundice, so Nandita naturally did not pay much attention to this. But she should have taken cognizance of what could be danger signs like:
- Muscle stiffness or at times uncontrolled movements
- Abdomen and legs have fluid build-up
- Kidney stones
- Irregularities in menstruation
- Swallowing/speech problems
- Poor appetite
- Tiredness, difficulty walking
- Clumsiness, tremors
- Low blood presssure
- Pain in abdomen
- Depression, anxiety, mood swings
- Kayser- Fleischer rings (discolouring of the eyes, mainly greenish-brown)
- Sunflower cataracts: Centre seems to be multicoloured with thin ray like specks emanating from it
What exactly is Wilson’s Disease?
Wilson’s Disease is quite an uncommon condition, caused due to improper copper metabolism, usually diagnosed among kids and adults in the range between 5-35 years. It is also known as copper storage disease as, excessive
copper is produced and the body cannot eliminate it, and also because copper transportation from the liver to other parts of the body gets disrupted. All this is a result of gene mutation. Even though Wilson’s Disease may prevail since birth, the symptoms may not show up until the copper build-up goes beyond the tolerance level and the liver begins to get affected. It originates through an autosomal recessive trait – this implies receiving a copy of an abnormal gene from both parents.
As symptoms of Wilson Disease are similar to other ailments such as metal poisoning, it is difficult to diagnose. This is why tests are used to check copper accumulation alongwith medical history of the family. Wilson’s Disease can be manifested only if neurological symptoms are manifested without the K-F rings, in the syes.
Early diagnosis would mean being alert and reporting symptoms which are typical of any liver disease. It is important to note that ordinarily, the urinary copper excretion rate is less than 40 mcg per day, but in those with Wilson’s Disease build-up, it exceeds 100 mcg. Management of Wilson’s Disease is characterized by:
- Chelating agents such as trientine, penicillamine serve as binding agents and inhibit copper being absorbed from the gastro-intestinal tract.
- Radiolabeled copper testing and genetic testing
- Surgical decompression
- Protein restriction
- Zinc therapy is mainly a secondline therapy for those who cannot tolerate chelation.
- Liver transplant especially in case of acute liver failure
- Liver biopsyWhile research is being done for cellular therapy, advanced testing techniques can be used to detect Wilson’s Disease. Brain imaging: MRI’s and CT’s are also being used currently.
Treatment is in three stages:
- In the first stage, chelators are used to drain out excess copper from the body. Medicines such as Syprine extract copper and direct it into the bloodstream, then filtered into urine through the kidneys.
- The second stage maintains normal levels of copper, this is the phase when zinc is introduced.
- After normal copper levels are restored, maintaining them is required, this is the third phase.
For Nandita, it wasn’t the end of the road. She had already been diagnosed and was receiving proper care and treatment at Hospital in Mumbai. Every year, patients with Wilson’s Disease numbering over 200 yearly are treated by Hepatologist.
Nandita’s mom, Anuradha states, “We don’t know when exactly Nandita developed Wilson’s Disease, it may have started when she was 6 or 7 years old. Her symptoms began to show, recently in her teenage years. It’s baffling and we were in a quandary as to what sort of affliction this is and how it is to be treated.”
She hastens to add, “But we feel reassured now that we are in good hands. Doctors revealed to us, that one in 30,000 people have Wilson’s Disease, around the world, but the majority lead normal lives, just like us.”
At this juncture, the chirpy Nandita interjected, “People should realize that they cannot stop medication on their own. I will not discontinue my medication or there will be copper build-up again.”
However, delay in seeking treatment or leaving it untreated can lead to liver failure, brain damage and may even prove fatal.