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Fabry disease in Adult
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Fabry disease in Adult

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
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Fabry disease is a rare X-linked recessive lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to an accumulation of glycosphingolipids within lysosomes. These lysosomal deposits of globotriaosylceramide (Gb3) are responsible for the impaired cell function and the clinical features of the disease. Organs predominantly involved include the kidneys, skin, heart, and the nervous system. Deposits in the vascular endothelium lead to vascular occlusion and thrombosis. Renal deposits lead to proteinuria and renal failure. Dysfunctional valves and cardiomyopathy result from cardiac deposits. Characteristic skin lesions are present. These are angiokeratomas, which are dark red macules or papules that are located in clusters on the body in the bathing trunk area. These develop when a patient is aged approximately 12 years. Their number tends to increase with time as undegraded lipids continue to be deposited.

Signs and symptoms are myriad. Pain is one of the earliest symptoms, and the most incapacitating, starting with acroparesthesia and a burning pain in the hands and feet, often in the first decade of life. A more severe form of pain, known as Fabry crisis, occurs, beginning in the hands and feet and radiating proximally into the limbs. This pain may be initiated by factors such as heat, cold, fatigue, stress, illness, or exercise. Episodes of pain may last from a few minutes to hours or even days. Episodes of Fabry crisis tend to decrease with advancing age.

Chronic pain may have an even greater impact on the patient's psychosocial wellbeing.

The second most common group of symptoms includes abdominal pain, nausea, vomiting, and diarrhea from early childhood. Additional symptoms include joint pain, intolerance to heat and exercise due to hypohidrosis and anhidrosis, dry eyes, and dry mouth. Hearing loss and tinnitus, aphasia, dysarthria, diplopia, vertigo, seizures, and valve disease occur in adulthood. The disease culminates in progressive cardiomyopathy and left heart failure, impaired renal function, and stroke, usually when patients are in the third to fifth decade of life.

As Fabry disease is an inherited disease, the onset of symptoms begins in early childhood. However, a diagnosis is typically not made until much later in life for the first family member diagnosed with the disease. Other affected family members are often diagnosed at an earlier age.

The condition generally progresses as follows:
  • Early childhood sees the onset of the burning pain of the hands and feet, which begins between the ages of 5 and 7. Abdominal pain and diarrhea, hypohidrosis, poor growth, and then angiokeratomas develop between the ages of 5 and 13.
  • The second cluster of symptoms begins in early adulthood, with impairment of renal function beginning as proteinuria.
  • Lastly, there is the onset of cerebrovascular manifestations including conduction disturbances and progressively worsening renal function.
  • Chronic renal failure is the most frequent cause of death in the third or fourth decade of life.
Studies have shown that common signs and symptoms are more frequent in boys than in girls. Because Fabry disease is X-linked and girls have 2 X chromosomes, their symptoms can range from mild to severe. Also, the appearance of symptoms is earlier in boys than in girls, with the median age of onset in boys being around 6 years, whereas in girls it is around 9 years. Symptoms that appear earlier in boys than in girls include gastrointestinal symptoms as well as neuropathic pain. The appearance of these symptoms affects the quality of life that these children have in early childhood.

The disease affects from 1:40 000 to 1:117 000 individuals, primarily hemizygous males. Female, heterozygous carriers may experience effects ranging from full-blown disease to absence of clinical features. Average lifespan of affected males is usually about 50 years.

For more information, see OMIM.


E75.21 – Fabry (-Anderson) disease

16652001 – Fabry's disease

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Last Updated: 04/09/2019
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Fabry disease in Adult
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Fabry disease : Abdominal pain, Acroparesthesias, Corneal opacities, Hypohidrosis, Extremity pain, Telangiectasias
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