What is it?

Fabry Disease is a rare metabolic disorder from the group of lysosomal storage disorders. In this disorder, an enzyme called alpha-galactosidase A is not sufficiently activated, causing accumulation of sphingolipids in blood and tissues. This build up affects the heart, kidneys, brain, central nervous system and skin, The cause for this disease is a mutation in the galactosidase alpha gene on the X chromosome. It is a genetic condition.In the classic type, symptoms begin in the early childhood and get worse. In the atypical or late-onset type, symptoms begin in the 30s or older and may present with kidney failure or a heart disease.Complications of Fabry disease include arrhythmia, heart attacks, heart failure, kidney failure, nerve damage and stroke.On average, males with Fabry live until their 50s and females until their 70s.
Gaucher Disease (GD) is a genetic disorder, in which a substance called glucocerebroside builds up in certain organs, causing enlarged and poor functioning organs. Gaucher is common in Ashkenazi Jewish. Gaucher disease has three types, all are autosomal recessive, and each one is linked to a different mutation. The mutation causes the enzyme which breaks up the glucocerebroside, does not work properly- causing its accumulation.Type 1 of the disease is the most common. Symptoms and their severity vary between the types, and even in the same type. It usually affects the liver, spleen, bones, and bone marrow. Complications of Gaucher’s disease may include failure to thrive, gynecological and obstetric problems, parkinson’s disease and malignancies such as myeloma, lymphoma and leukemia.

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Additional names

This group contains additional names:
- Anderson–Fabry Disease
- Fabry Disease
- Gaucher Disease

Signs & symptoms

Fabry disease symptoms depend on the type of disease and on the person’s gender- males tend to have more severe symptoms. The symptoms may include numbness, tingling, burning or pain in the hand or feet, extreme pain during physical activity, heat or cold intolerance, abnormal cornea, dizziness, fatigue, fever, diarrhea, constipation, abdominal pain, hearing loss, tinnitus, proteinuria, raised red or purple skin lesions, sweating less or not at all and leg edema.
Gaucher disease symptoms may include enlarged spleen and liver, hypersplenism and pancytopenia, fatigue, easy bruising, cirrhosis, joints and bones pain, osteoporosis and fractures, . In type 1 of the disease, there can be impaired olfaction and cognition. In part 2, convulsions, intellectual disability and apnea may be present. In type 3 symtpoms may include muscle twitches, convulsions, dementia, and ocular muscle apraxia.


Diagnoses can be done by an enzyme test, to measure levels of the GAL enzyme in the blood, this test is only reliable in males. DNA sequencing to identify the GLA gene mutation can be done to detect the genetic changes.
Gaucher disease diagnosis is suggested based on the overall clinical picture. On physical examination- the abdomen may be checked for enlarged spleen or liver. Lab tests can check for the levels of enzyme.Decreased enzyme levels will often be confirmed by genetic testing. It is also available today, to test the mutation as prenatal screening before pregnancy.


There is not a cure for Fabry disease, but there are therapies that can slow down the disease progression. Enzyme replacement therapy is given twice a month, intravenously of an artificial agalsidase beta enzyme and prevents the buildup of fatty acids. Oral chaperone therapy can be given to some of the patients to repair the faulty gene so that it can break down the fatty acids.
There is no cure for Gaucher disease, but treatment may help some symptoms, and must be customized to the patients, the severity of his symptoms and his disease type. Enzyme replacement therapy may be useful for those with type-I and most type-III.It is given intravenouslt every two weeks. Miglustat and Eliglustat are oral medications that interfere with the production of glucocerebroside. Medication can also be prescribed for osteoporosis. For more severe symptoms, bone marrow transplant and spleen removal may be performed.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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