What is Fabry disease?

This is the 3759th article of Da Yi Xiao Hu

A strange disease

Datou used to be a doctor, but he was always suffering from a strange disease, which could not be diagnosed for a long time! Everything started from his childhood——

Datou has had pain in his hands and feet since he was six years old. His body is still unable to sweat. The pain is most likely to be triggered by hot weather or climate change. His fingers, toes, and soles of his feet feel like they are burning. Sometimes he has to take off his shoes and socks and blow on his feet with a fan.

The worst condition occurred during his adolescence. He often suffered from burning pain in the extremities. When the pain came, he would roll on the ground and just wanted to cut off his hands and feet. Anhidrosis was also very uncomfortable. Summer was hell for him. He often had to soak in a water tank.

The most painful thing was that his family took him to many hospitals, but they could not diagnose what the disease was. They had dozens of tests, such as MRI, CT, bone marrow puncture, expert consultation, and even psychological tests. Finally, a doctor at a large hospital said that the child was fine and that the disease was probably fake. But the fever that accompanied the pain was certain!

As I got older and passed puberty, the pain inexplicably eased a lot and no longer occurred so often. Although I still couldn't sweat, which was very uncomfortable in the summer, and I also had some fine angiokeratoma on my hands and feet, it didn't affect my daily life much.

It was this strange disease that made him decide to study medicine - since other doctors couldn't find out what disease he had, he decided to treat himself! Later, he became a doctor as he wished. Although he couldn't treat himself, he did find the culprit himself.

That was in 2005. Thanks to Datou’s visit to Beijing for medical treatment and examination, the mystery that had troubled him for many years was finally solved – it was Fabry disease, which can cause multiple organ lesions such as the heart, brain, and kidneys, and even be life-threatening.

What is Fabry disease?

Fabry disease is an extremely rare X-linked inherited glycosphingolipid metabolic disease. It is a disease known as abnormal metabolism of lysosomal lipoproteins in human cells. Because of the lack of an enzyme in the body, some lipoproteins cannot be decomposed, and the accumulation causes lesions in various systems. For example, it can cause very severe pain in the limbs and cause serious damage to the heart, brain, kidneys, nerves and other organs. The disease is progressive and worsening, and it will be life-threatening if it is not effectively treated.

What are the symptoms of Fabry disease?

The clinical symptoms of this disease usually begin to appear in childhood or adolescence, and the symptoms are more severe in males. The main clinical manifestations of this disease include: (1) intermittent pain or paresthesia in the hands and feet. The pain is as severe as a burning sensation. In severe cases, it is impossible to live and work normally. The pain can last from a few minutes to a few days, and sometimes recurs. The pain usually occurs when the temperature is high or the seasons change, and may worsen after exercise. (2) Purple-black or red angiokeratoma often appears in the lower abdomen, scrotum, thighs, and external genitalia. The severity of the lesion often worsens with age, and the patient's ears, conjunctiva, oral mucosa, and nails may also develop lesions. Vortex corneal opacity in the eye is a unique manifestation of this disease.

How is Fabry disease treated?

The treatment of Fabry disease can be divided into symptomatic treatment and enzyme replacement therapy. Enzyme replacement therapy needs to supplement the enzymes that are lacking in the patient's body to keep lipid metabolism in a normal state, improve the patient's symptoms, and prevent the progression of the disease. Currently approved drugs include agalsidase beta for injection (trade name: Fabryn) and other drugs.

*Shanghai Science Education Development Foundation (Project No.: B202117)

Author: Shanghai Baoshan District Hospital of Integrated Traditional Chinese and Western Medicine

Dr. Xia Lemin