Fabry's disease history and symptoms: Difference between revisions
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* [[Loss of vision]] from corneal and lenticular opacities | * [[Loss of vision]] from corneal and lenticular opacities | ||
'''Nephrology''' | '''Nephrology''' | ||
*Impaired ability of the medullary renal tubules to concentrate the urine | *Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria) | ||
*Microalbuminuria, proteinuria | *Microalbuminuria, proteinuria | ||
Revision as of 22:56, 17 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Signs and Symptoms
Neurological
- Lack of sweating (anhidrosis) or decreased sweating
- Burning pain in the extremities
- Loss of sensations in extremities
- Lack of coordination of muscle movement (ataxia)
- TIA or ischemic strokes
Gastrointestinal
- Difficulty swallowing (dysphagia)
- Abdominal pain
- Greasy stools (steatorrhea)
- Difficulty gaining weight
- nausea and vomiting
- post prandial pain
Cardiac
- Chest pain and palpitations
- Arrhythmias - ventricular
Skin
- Red spots on skin (angiokeratomas): tiny, painless papules that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin.
- Telangiectasis
- decreased sweating ( hypohydriosis)
Musculoskeletal
- Osteopenia
- Osteoporosis
Endocrine
- Delayed puberty
- intolerance to heat
General
- fatigue
- Pyrexia of unknown origin
- Cyanosis of extremities on exposure to cold (Raynaud's phenomenon)
ENT
- Hearing loss
- deafness
- tinnitus
Ophthalmological
- Loss of vision from corneal and lenticular opacities
Nephrology
- Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria)
- Microalbuminuria, proteinuria
Respiratory
- wheezing
- chronic cough
Pathophysiology behind the earliest and most common manifestations of FD include the following :
- Angiokeratomas- occurs as a result of the damage to the vascular endothelia cells with dilation of the vessels in the dermis. These clusters of reddish purple raised skin lesions increase with age.
- Neuropathic pain - Burning sensation in the extremities seen as a result of the small nerve fibres of the peripheral and somatic autonomic nervous system.Episodic crises ("Fabry crises") characterized by burning pain originating in the extremities and radiating inwards towards the limbs and chronic pain characterized by burning and tingling paraesthesias. These episodes of pain are precipitated by fever, exercise, fatigue, stress, and sudden changes in temperature.[1]
- Post prandial pain and Diarrhoea - Involvement of the autonomic ganglia in the bowel wall and mesenteric blood vessels is responsible for the varied gastrointestinal involvement seen
- Arrhythmias - This is predominantly seen in adulthood and occurs as a result of the involvement of the conduction system and an imbalance created between sympathetic and parasympathetic systems. Ventricular arrhythmias have been indicated as a poor prognostic sign and the cause of cardiac related deaths in patients affected with FD .
- Microalbuminuria - seen as a result of deposition of Gb3 in the glomerular endothelial and mesangial cells. The damage caused to the renal tubules as a result of this deposition decreases the urine concentrating ability of the kidneys and overtime the renal function declines progressively and irreversibly. [2]
References
[1] Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann. 2009;38:190–192. doi: 10.3928/00904481-20090401-01
[2] Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. .