Question: What is (are) Fabry disease ?
Answer: Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
Source: GARD

Question: What are the symptoms of Fabry disease ?
Answer: What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Anemia 90% Arthralgia 90% Arthritis 90% Cerebral ischemia 90% Congestive heart failure 90% Conjunctival telangiectasia 90% Corneal dystrophy 90% Hematuria 90% Hyperkeratosis 90% Hypohidrosis 90% Malabsorption 90% Myalgia 90% Nephrotic syndrome 90% Opacification of the corneal stroma 90% Paresthesia 90% Renal insufficiency 90% Telangiectasia of the skin 90% Abnormality of lipid metabolism 50% Abnormality of the aortic valve 50% Abnormality of the genital system 50% Abnormality of the mitral valve 50% Abnormality of the renal tubule 50% Anorexia 50% Arrhythmia 50% Behavioral abnormality 50% Cataract 50% Coarse facial features 50% Cognitive impairment 50% Emphysema 50% Nausea and vomiting 50% Nephropathy 50% Optic atrophy 50% Proteinuria 50% Short stature 50% Thick lower lip vermilion 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Abnormality of the femur 7.5% Chronic obstructive pulmonary disease 7.5% Coronary artery disease 7.5% Developmental regression 7.5% Diabetes insipidus 7.5% Glomerulopathy 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Lymphedema 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Vertigo 7.5% Abnormality of the hand - Angina pectoris - Angiokeratoma - Delayed puberty - Diarrhea - Dysautonomia - Fasciculations - Juvenile onset - Left ventricular hypertrophy - Left ventricular septal hypertrophy - Muscle cramps - Myocardial infarction - Nausea - Obstructive lung disease - Tenesmus - Transient ischemic attack - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What are the treatments for Fabry disease ?
Answer: How might Fabry disease be treated? Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications. Treatment for acroparesthesias (pain in the extremities) may include diphenylhydantoin and/or carbamazepine to reduce the frequency and severity of pain crises; or gabapentin, which has also been shown to improve pain. Renal insufficiency may be treated with ACE inhibitors. Experts recommend ACE inhibitors for all individuals with evidence of kidney involvement, especially to reduce protein in the urine (proteinuria). Chronic hemodialysis and/or renal transplantation have become lifesaving procedures for affected individuals. The transplanted kidney remains free of the harmful fatty substance (glycosphingolipid) deposition. Therefore, successful renal transplantation corrects the renal function. Transplantation of kidneys from carriers for Fabry disease should be avoided because these kidneys may already be affected. All potential donors that are relatives of the affected individual should be evaluated for their genetic status to make sure they are not affected or a carrier. Enzyme replacement therapy (ERT) is generally used to improve some of the the signs and symptoms associated with Fabry disease and to stabilize organ function. Experts have recommended that ERT be started as early as possible in all males with Fabry disease (including children and those with end stage renal disease (ESRD) undergoing dialysis and renal transplantation) and in female carriers that are significantly affected. All of these individuals are at high risk for cardiac, cerebrovascular (interruption of blood supply to the brain), and neurologic complications, such as transient ischemic attacks and strokes. The role of ERT in the long-term prevention of renal, cardiac, and central nervous system (CNS) involvement is unproven; however, because ERT can stabilize organ function in individuals with more advanced disease, some have suggested starting ERT in early disease stages. This might include starting ERT when an individual is asymptomatic. Prevention of complications such as renovascular disease (conditions affecting the blood vessels of the kidneys), ischemic heart disease, and cerebrovascular disease in affected individuals is generally the same as for the general population. Measures taken may include ACE inhibitors and/or ARB drugs for proteinuria or albuminemia (high levels of albumin in the blood); blood pressure control; and cholesterol control. Aspirin and other medications may be recommended for the prevention of stroke. Surveillance may include yearly or more frequent renal function studies, yearly cardiology evaluation, and yearly hearing evaluation.
Source: GARD