This is the 3759th article of Da Medical Care
A strange disease
Datou used to be a doctor, but he has been tormented by a strange disease, and he has not been diagnosed for a long time! It all starts when he was a kid —
Since the age of six, the big head has experienced pain in his hands and feet, his body is still unable to sweat, the weather is hot or climatic, it is most likely to induce pain, fingers, toes, soles of the feet are like fire, sometimes take off shoes and socks, use fans to blow feet.
The worst of things happened during his adolescence, when burning pain at the ends of his limbs often flared up, and when it hurt he rolled all over the floor and just wanted to cut off his hands and feet. No sweating is also terrible, summer is hell for him, often have to soak in the water tank.
The most painful thing is that his family took him to many hospitals, and he has not been able to diagnose what the disease is - MRI, CT, bone marrow puncture dozens of examinations, expert consultation, and even psychological tests have been done. Finally, the doctor of a large hospital actually said that the child was no problem, and the disease was estimated to be pretended. But every time the pain is accompanied by a fever, it is certain!
With age, after puberty, this pain also inexplicably relieves a lot, and it is no longer so frequent. Although I still can't sweat, the summer is very uncomfortable, and my hands and feet have some fine angiokeratoma, which does not affect the daily life of Datou much.
It is this strange disease that makes him aspire to study medicine - since other doctors can't find out what disease he has, then see himself! Later, he became a doctor as he wished, and although he could not treat himself, he really found the culprit himself.
It was 2005, and as Datou came to Beijing for a medical examination, the mystery that had plagued him for many years was finally solved — it was Fabry disease that caused multiple organ lesions such as the heart, brain, kidneys, and even endangered lives.
What is "Fabre disease"?
Fabre disease is an extremely rare X-chromosome-linked inheritance of sphingosine lipid metabolism disease, which is a disease known as abnormal metabolism of lipoproteins in human cells, because of the lack of an enzyme in the body, resulting in some lipoproteins can not be broken down, piling up and causing 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, resulting in lesions, the disease shows a progressive aggravation trend, if not effective treatment will be life-threatening.
What is the manifestation of "Fabray disease"
Most of the clinical symptoms of the disease begin to appear in childhood or adolescence, and the symptoms are more severe in men. The main clinical manifestations of the disease include: (1) intermittent pain or paresthesia in the hands and feet, and the pain level is like a burning sensation, and it is impossible to live and work normally when severe. The pain can last from minutes to days and sometimes recur. Pain usually occurs when temperatures are higher or seasonally changing and can be exacerbated after exercise. (2) Purple-black or red angiokeratoma (angiokeratoma) often appears in the lower abdomen, scrotum, thighs, and external genitalia. The extent of lesions often increases with age, and lesions may also occur in the patient's ears, conjunctiva, oral mucosa, and nails. Vortex cornea opacity in the eye is endemic to the disease.
How "Fabre disease" is treated
Treatment of Fabre disease can be divided into symptomatic therapy and enzyme replacement therapy. Enzyme replacement therapy requires supplementing 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. Drugs such as agase enzyme β (trade name: Fabuzan) for injection are now approved for marketing.
*Funded by Shanghai Science Education Development Foundation (Project No.: B202117)
Author: Shanghai Baoshan District Hospital of Integrated Traditional Chinese and Western Medicine
Dr. Xia Lemin, M.D