When the body can’t break down fats

Hassan Suraw was ecstatic when he became a dad for the first time. It was a responsibility he was excited about, and his wife was thriving in her new role too. But at the age of 15 months, the Suraws began to notice that baby Nazlin was not quite growing as she should. “She had a poor appetite and general body weakness. As she grew older, she often complained of bone and joint pains. Her stomach was also abnormally large,” says Suraw.

When they took her to hospital, the doctor run some tests and told the worried parents that Nazlin had an enlarged spleen and liver. She was also anaemic with a low count of blood platelets. The doctor would later confirm that she had Gaucher disease.

Gaucher disease is brought about by a malfunctioning enzyme, leading to a build-up of certain fatty substances in certain organs, particularly spleen and liver. “This rare genetic disease is caused by low levels of glucocerebrosidase (GCase). GCase is an enzyme that breaks down a fatty chemical in the body called glucocerebroside,” explains Dr Rosemary Wanjiru, an endocrinologist.

“Accumulation of the fat leads to the organs getting inflamed thus affecting their function. The presentation of symptoms widely varies; some patients present in childhood with virtually all the complications of Gaucher disease, whereas others remain asymptomatic into the eighth decade of life,” she says.

The fatty substances can also build up in bone tissue, weakening the bone and increasing the risk of fractures. “When I found out about Gaucher, I went on a research spree. I wanted to know all there was about the disease that was attacking my little girl,” he says.

Despite Gaucher being an inherited disorder, Suraw says that none of his known family members have experienced it. “I have two other children and we are planning to go for genetic testing to confirm that they are not carriers of any of these genes. They currently have no health complications,” he says. 

Treating Gaucher

When Suraw found out that Gaucher has no cure, he was heartbroken and went on a research frenzy for a therapy that would manage the effects.

Dr Wanjiru explains that enzyme replacement therapy can be applied whereby the low levels of GCase are replenished.

“This involves receiving intravenous (IV) infusions about every two weeks, either at an infusion centre or at home,” she explains. There is also a newer therapy known as substrate reduction therapy (SRT).

“This is one where the patient ingests an oral medication that decreases the amount of glucocerebroside that the body makes, reducing excess build up.”

Nazlin does enzyme replacement therapy. “I have to ensure she gets this treatment every two weeks for all her lifetime,” Suraw says.

She also has to be on a special iron rich diet to counter the anaemia. The family has also had to move for Nazlin’s safety.

“She is also prone to fractures. So even when playing outside, we have to ensure that she avoids pushing and pulling games that could harm her. This is why I decided to relocate my family to the village where my daughter can at least play freely in the sun and sand.”

Types of Gaucher

The disease is especially common among the Ashkenazi (Eastern European) Jewish people

 There are two types of Gaucher disease; Type I and Type II.

Type I, also known as the nonneuronopathic, is the most common type among Gaucher patients. It is also the milder form that doesn’t affect the central nervous system. Its common characteristics are enlargement of the liver and spleen (hepatosplenomegaly), low number of red blood cells (anaemia), lung disease and bone abnormalities. Some patients experience bone pain, fractures and arthritis.

Type II has two variants and are all characterised by problems affecting the central nervous system. However, in addition to the Type I symptoms, the affected can suffer abnormal eye movements, seizures and subsequent brain damage. For type II to be diagnosed, usually they just observe that symptoms in type II have worsened however slowly, but evident.

“Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds. When the presentation is in childhood, the child may present with failure to thrive, seizures and congenital heart valve disorders,” says Dr Wanjiru.

Diagnosing Gaucher

Diagnosis of this disease can be confirmed through a test that looks at activity in blood. Therefore, a result of less than 15 per cent of mean normal activity is usually a sign. Dr Wanjiru also says that genotype testing can also be done on the patients to help detect the presence of these genes in the body.

“We also have ancillary testing whereby blood is tested for features of anaemia and low platelet count,” she says.

Other signs include abnormal liver functions, and an elevated converting enzyme called angiotensin. This is a protein hormone that is responsible for causing blood vessels to become narrower. It helps to maintain blood pressure and fluid balance in the body.