The number of rare disease patients is increasing. However, due to insufficient social attention, rare disease patients are moving from one hospital to another without receiving proper treatment promptly. Although the government announced the 'Rare and Incurable Diseases Patient Support System' in January last year to alleviate the suffering of rare disease patients, more practical support is still needed. Health Trend has prepared a particular feature article titled 'Overcome! Rare Diseases' to help diagnose and treat rare disease patients. [Editor's Note]

Fabry disease, a rare disorder, affects approximately 1 in every 117,000 people worldwide. Due to the nature of the disease, accurate statistics are challenging to compile, but it is estimated that there are around 200 patients in South Korea.

Patients feel an instant sense of fear when they receive a diagnosis of a rare disease.

It may be the weight carried by the term 'rare.'

However, there's no need to be afraid.

The South Korean government has well-established measures in place from diagnosis to treatment for rare diseases, and there are dedicated medical professionals who spare no effort in providing care.

Kim Kyung-hee, Manager of the Cardiology Department (Director of the Heart Transplant Center), whom I met recently, is a good example. I had the opportunity to discuss Fabry disease with Manager Kim Kyung-hee.

Dealing with just heart disease would be daunting enough, let alone managing the treatment of rare diseases.

When we hear 'heart disease,' we often think of conditions like angina or myocardial infarction.

However, being in the medical field, I've encountered many patients suffering from rare hereditary diseases that manifest symptoms of heart failure.

Fortunately, these conditions are treatable because there are available therapies.

For instance, diseases like Fabry disease or pulmonary arterial hypertension now have developed treatments, significantly improving patients' quality of life and survival rates compared to the past.

Moreover, as our hospital specializes in cardiology, we can effectively identify and manage patients with rare heart-related conditions.

Among rare diseases related to the heart, 'Fabry disease' is relatively well-known.

Fabry disease is one of the lysosomal storage disorders caused by enzyme deficiency.

Lysosomes play a role in breaking down cells that are difficult to recycle within the cell.

The problem arises when even a single enzyme within the lysosome encounters an issue, leading to difficulties in various body parts such as the brain, heart, and kidneys.

Fabry disease is a rare hereditary disease where globotriaosylceramide (Gb3) accumulation occurs due to a deficiency in the enzyme alpha-galactosidase A.

Alpha-galactosidase A is inherited in an X-linked recessive manner.

Correct. Since alpha-galactosidase A is an X-linked recessive gene, it is possible to estimate the likelihood of a child inheriting the genetic mutation causing Fabry disease based on family history.

If the mother carries the genetic mutation for Fabry disease, regardless of the child's gender, there is a 50% chance of inheriting the mutation.

However, if the father carries the genetic mutation, daughters have a 100% chance of inheriting it, while sons will not.

Given that Fabry disease is associated with the X chromosome, female patients may worry about passing the condition on to their children.

However, since Fabry disease can be managed effectively with proper treatment, there is no need to fear as it allows for an everyday life.

The term 'hereditary' often carries a stigma for individuals with rare diseases. Fabry disease might face similar challenges.

That's correct. Patients with genetic disorders often experience emotional distress and guilt due to indiscriminate information found on the internet.

However, genetic diseases may not always manifest phenotypically, even if the individual carries a mutated gene, and they can result from a combination of environmental factors and other influences.

Therefore, the media and the public should be cautious in their discourse to ensure that patients can live without social stigma.

Fortunately, Fabry's disease is not visibly apparent, which sets it apart from other rare diseases. I believe there is little negative scrutiny directed outwardly towards it.

However, individuals with Fabry disease need to be aware of the condition's progression over time, which may lead to deterioration of cardiac and renal function, necessitating dialysis. Therefore, accurate recognition of the disease and proactive treatment are crucial.

In the case of Fabry disease, symptoms manifest throughout the body, making diagnosis challenging.

It's a regrettable aspect. Like any other condition, early treatment is crucial for Fabry disease.

In its early stages, Fabry disease primarily presents with pain in localized areas such as the hands and feet, which patients may dismiss as mere fatigue, leading to delayed treatment.

However, over time, globotriaosylceramide accumulates in various organs, including the kidneys and heart, exacerbating the condition.

At this stage, patients may experience symptoms ranging from numbness and pain to neurological complications, stroke, and kidney failure, prompting hospital visits. Moreover, in severe cases, there may be a need for kidney transplantation, underscoring the importance of early diagnosis.

Particularly, one of the symptoms of Fabry disease, heart failure, can be prevented by administering treatment before complications arise. Most patients suffer from diastolic heart failure, which can lead to respiratory distress or pulmonary edema. Hence, early administration of treatment is paramount.

Asymptomatic individuals may feel anxious about when symptoms will manifest.

Indeed. Therefore, asymptomatic Fabry disease patients should accurately determine the timing of albuminuria and the onset of diastolic heart failure to initiate early treatment.

Therefore, one should not fear Fabry disease but regularly visit healthcare providers for examinations. If unusual symptoms such as numbness in the hands and feet, difficulty breathing, or abnormalities in urine are noticed, immediate medical attention should be sought.

In the case of young patients without initial symptoms, they should undergo ultrasound and urine tests annually. However, since ultrasound is not yet covered by health insurance, if there is an economic burden, one alternative is to monitor for electrocardiographic changes before an ultrasound.

It is known that there are two enzyme replacement therapies available for Fabry disease treatment in South Korea, differentiated by their cellular sources.

There are two enzyme replacement therapies available in South Korea. One therapy is based on human cell lines, while the other is on animal cell lines.

The enzyme replacement therapy based on animal cell lines is administered more slowly due to the higher likelihood of hypersensitivity or allergic reactions.

In some cases, antihistamines or steroids may be administered to reduce the patient's immune response before treatment.

On the other hand, therapy based on human cell lines generally induces relatively fewer immune reactions and is typically completed within one hour.

Since individual responses may vary, no strict guidelines state that this medication must be used in all cases.

Opinions on family screening vary.

Some people have opposing views on family screening, possibly due to social perceptions.

However, Fabry disease is a treatable condition.

For this reason, family screening for Fabry disease is crucial, as outlined in the guidelines.

If one family member is diagnosed with Fabry disease, genetic testing, as well as cardiac examinations such as echocardiography and electrocardiography, and kidney examinations such as proteinuria and microalbuminuria tests, must be performed for the three generations above and below.

Even if no symptoms are present after confirmation of the Fabry disease gene, family screening, pain assessment, urine tests, and cardiac examinations should be conducted every 6 months to 1 year.

This is because Fabry disease manifests differently in each patient. For example, in female patients, symptoms typically appear after age 40.

Fabry disease often manifests late, causing great concern for children.

Children of patients with Fabry disease may exhibit various reactions, ranging from indifference to extreme caregiving or even resentment towards their parents, thinking that they have been afflicted with the disease because of them.

However, it is urged not to solely attribute the disease to their parents.

Instead, they should consider it as something that could also affect themselves and take care of their parents. Fabry disease is a treatable condition that allows individuals to lead everyday lives.

Although our center is not large in scale, we manage five Fabry disease patients through family screening.

Additionally, we enhance accessibility by communicating with patients through social media.

Everyone is continuing their daily lives. Since Fabry disease is a treatable condition, there is no need to be afraid.

Reported by Wonguk Lee Translated by Jini Jung 다른기사 보기