Awareness of rare diseases in Mexico has increased notably by means of the media, internet and of course the work of patient groups that demand healthcare for patients. The definition of a rare disease in Mexico is for less than 5 in every 10 000 individuals.
It’s estimated that about 7 million Mexicans have a rare disease and only 500 of them have been diagnosed. This is due to several factors such as lack of knowledge about the disease, misdiagnosis, difficulty in accessing health care, and even availability of treatments. These are the 7 most common rare diseases in Mexico:
- Myelofibrosis- a type of cancer in which the bone marrow is replaced by fibrous tissue, leading to spleen dilation, fatigue and pain.
- Cushing disease- starts off as a tumor in the pituitary gland and progressively leads to other complications such as diabetes, hypertension, osteoporosis, infections, and kidney failure.
- Tuberous sclerosis- genetic disorder characterized by the appearance of benign tumors in the the skin, nervous system, kidneys, and heart.
- Acromegaly- excessive growth hormone secretion which causes overgrowth of feet, hands, nose, tongue, lips and mandible, and engrossed skin.
- Fabry disease- a genetically- inherited disorder in which the lack of alpha-galactosidase results in accumulation of cellular fat known as globotriaosylceramide that irritates tissues and several organs including kidneys and heart.
- Gaucher’s disease- genetic disorder in which the lack of the enzyme glucocerebrosidase results in fat build-up in the cells causing anemia, platelet depletion, loss of bone density, chronic pain, growth retardation, and enlargement of the spleen and kidneys.
- Mucopolysaccharidosis type 1- lysosomal storage disorder caused by an enzyme deficiency that affects/destroys all organs in the body. It causes enlarged tongue and arm bones, limited arm mobility, and hernias in the groin and bellybutton area.
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