Fabry disease in Adult
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, begins in the hands and feet and radiates 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 starting in 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 earlier.
The condition, if untreated, generally progresses as follows:
- Early childhood sees the onset of burning pain of the hands and feet between the ages of 5 and 7 years. Abdominal pain and diarrhea, hypohidrosis, poor growth, and then angiokeratomas develop between the ages of 5 and 13 years.
- The second cluster of symptoms begins in early adulthood, with impairment of renal function beginning as proteinuria.
- Lastly comes 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.
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
- Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) – if familial, is autosomal dominant
- Angiokeratomas of Fordyce
- Angiokeratomas of Mibelli
- Angiokeratoma circumscriptum neviform
- Lobular capillary hemangioma (pyogenic granuloma) – usually not multiple
- GM1 gangliosidosis
- Eruptive angioma
- Alpha-N-acetylgalactosaminidase deficiency (Schindler disease)
Last Updated: 01/16/2020