How is Fabry disease diagnosed?

The human body has many organs and body parts that work in manner to enable humans to live, strive and survive in many conditions. There are many diseases that could affect a human throughout his or her life. Some diseases may even be presented at birth and may affect the person’s lifetime. In the world of medicine, there is a disease known as Fabry disease. Fabry disease is considered as one of the many rare diseases in the world.

Fabry disease, also known as alpha-galactosidase-A deficiency, is an inherited neurological disorder. This disease occurs as a result of the inability of the enzyme alpha-galactosidase-A to break down fat or specifically lipids into smaller components. This enzyme is important in converting fats into energy for the body. Due to the inability to break down lipids and remove the lipids from blood, it will lead to lipid build-up that is harmful for the many parts of the body, particularly the nerve system.

Fabry disease is known as a rare condition as it affects 1 in 1000 to 9000 people. In most cases, it is considered mild and symptoms may be presented later in life (late-onset forms) and in contrast with the classic, severe form. Reasons being why Fabry disease is considered as an inherited genetic disease is due to the X-linked pattern. It is considered an X-linked condition as the altered gene causing the disorder is located on the X chromosome. The altered gene associated with Fabry disease is the GLA gene. One altered GLA gene is enough to cause Fabry disease. Thus, male who have only one X chromosome in cells, makes it easier to have the condition and often more severe than in females.

There are 2 types of Fabry disease known as type 1 and type 2. Type 1 is known as classic subtypes and type 2 is known as late-onset subtypes. Both lead to kidney failure and/or heart disease. It may also lead to early death. Type 1 males have little to no functional alpha-galactosidase-A whereas males with type 2 have some functional alpha-galactosidase-A and do not have symptoms as early as those in type 1. Females tend to develop symptoms at later age and with lesser severity than in males.

Symptoms and signs typically begin in childhood. This includes burning pain arm and legs that get worse in hot weather or after exercise, minimal sweating (dyshidrosis) or inability to tolerate hot weather, clouding of the eyes due to the buildup in the clear part of the eyes which is the cornea and impaired circulation that may lead to stroke or heart attack resulted from the fatty storage within the blood vessels walls. Other symptoms include a skin disorder known as angiokeratoma (small and dark red spots on skin typically between the belly button and knees), ringing in the ears or hearing loss and stomach pain or bowel movements immediately after eating. Fabry disease can lead to kidney problems such as kidney failure and weak bone.

Patients with the late-onset Fabry disease, are presented with symptoms in later life which is around the age of 20 to 70 years old. Most with this type do not have the classical features as mentioned previously. The disease is typically dominated by a particular organ system, commonly the heart. Diagnosis made for this specific condition is usually accidental during heart diseases or kidney disease of unknown cause.

Due to the fact that Fabry disease is a rare disease, many of the people with this disease have symptoms for years before they are able to be diagnosed. At times, patients face other diagnoses due to the complexity of the disease before getting diagnosed with Fabry disease. Thus, it is important for those who have a family member with a history of Fabry disease, to get checked for Fabry disease. Simple blood test can measure the alpha-galactosidase-A level. DNA tests can also be helpful in diagnosing the condition.

Treatment often involves enzyme replacement to reduce the lipid storage and toe ase symptoms. This treatment also helps to preserve organ function. It is important to know that treatment available helps to treat symptoms but could never make Fabry disease go away for good. Other medications such as anti-platelet is given to prevent the possibility of stroke and blood pressure medications to slow down the progressive kidney disease. In some cases, patients might need dialysis or kidney transplant. Since there are many organ involvement associated or affected by Fabry disease, doctors usually will ensure patients receive care from many different health aspects including those specialise in heart, kidney, lung and digestive disease. Patients might also need to see a pain management specialist as the condition itself is usually a life-long disease and managing pain can greatly improve a patient’s quality of life.

Fabry disease could not be prevented but early diagnosis can be a great help. Early diagnosis can help patients to get the right treatment that will slow down the progression of the disease and ultimately help them live better.

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