Angiokeratoma corporis diffusum

Angiokeratoma corporis diffusum: Description, Causes and Risk Factors:Alternative Names: Diffuse angiokeratoma, glycolipid lipidosis, and most popularly known as Fabry disease.An X-linked inherited metabolic disease caused by a deficiency of lysosomal alpha-galactosidase A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other glycosphingolipids in blood vessels.Angiokeratoma corporis diffusum is an inherited genetic disorder caused by a defective gene. The disease causes fatty deposits in several organs of the body. The disease is caused by a defect in the gene that controls an enzyme called ?-galactosidase A.Angiokeratoma corporis diffusum is a progressive multisystemic condition affecting both males and females. Many of the signs and symptoms begin during childhood or adolescence. In general, men are more severely affected than women, although some women may show severe manifestations of the disease.Typically, women develop signs and symptoms approximately 6 - 10 years later than men, although this is not invariably the case. Patients with angiokeratoma corporis diffusum have an increased risk of death from renal, cardiovascular or cerebrovascular disease.The primary risk factor for Angiokeratoma corporis diffusum is having family members with the disease or who are carriers of the disease. The disease is extremely rare, affecting only 1 in 40,000 live births.Symptoms:Corneal opacities.
  • Joint or back pain.
  • Ringing in the ears.
  • Vertigo.
  • Pain and burning sensations in the hands and feet.
  • Dark red skin lesions that generally are found in the area between the belly button and the knees.
  • Inability to sweat.
  • Problems with the kidneys or heart.
  • Risk of early stroke or heart attack.
  • Chest pain.
  • Hypertension.
  • Frequent bowel movements after eating.
  • Diarrhea.Angiokeratoma corporis diffusum
Diagnosis:Angiokeratoma corporis diffusum is difficult to diagnose because of its heterogeneous signs and symptoms. Correct diagnosis is important because of the progressive morbidity associated with advancing disease.Lab tests should consist of examination of urine sediment, measurement of renal function and proteinuria, and a screening enzyme evaluation for ?-gal A. Those who screen positive should have the enzyme activity in leukocytes measured. Low levels of ?-gal A are diagnostic of Angiokeratoma corporis diffusum in men. In females, enzyme tests results can be misleading so genetic testing is usually more helpful to diagnose the disease and identify female carriers.In some cases, diagnosis is made by biopsy of skin lesions and/or kidneys, but usually less invasive tests as those described above are used. Other helpful investigations include ECG, MRI, echocardiography, etc.Eye examination may show diagnostic corneal or lenticular deposits.Treatment:There is no known cure for angiokeratoma corporis diffusum, although it may be treated by enzyme replacement. Specific symptoms, such as pain, and complications, such as high blood pressure, can be treated with the appropriate medication. Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function. The pain in the hands and feet usually responds to anticonvulsants. Gastrointestinal hyperactivity may be treated with appropriate medications.Disclaimer:The above information is general information. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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