Fabry's disease history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
A positive history of angiokeratomas, peripheral neuropathies, gradually decreased sweating, and gastrointestinal manifestations in childhood are suggestive of classic Fabry's disease. In the late-onset form of the disease neuropathic pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms.
History
- Fabry's disease should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities.
Symptoms
Neurological[1]
- Lack of sweating (anhidrosis) or decreased sweating
- Burning pain in the extremities(acroparesthesia)
- Loss of sensations in extremities
- Lack of coordination of muscle movement (ataxia)
- TIA or ischemic strokes
Gastrointestinal[2]
- Difficulty swallowing (dysphagia)
- Abdominal pain
- Greasy stools (steatorrhea)
- Diarrhea and constipation
- Difficulty gaining weight
- Nausea and vomiting
- Postprandial pain
Cardiac[3]
- Chest pain and palpitations
- Arrhythmias - ventricular
Skin[4]
- Red spots on the 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[5]
- Osteopenia
- Osteoporosis
Endocrine[6]
- Delayed puberty
- Intolerance to heat
General[7]
- Fatigue
- Pyrexia of unknown origin
- Cyanosis of extremities on exposure to cold (Raynaud's phenomenon)
ENT[8]
- Hearing loss
- Deafness
- Tinnitus
Ophthalmological[9]
- Loss of vision from corneal and lenticular opacities
Nephrology[10]
- Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria)
- Microalbuminuria, proteinuria
Respiratory[11]
- wheezing
- chronic cough
References
- ↑ Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C; et al. (2011). "Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel". BMC Neurol. 11: 61. doi:10.1186/1471-2377-11-61. PMC 3126707. PMID 21619592.
- ↑ Hoffmann B, Schwarz M, Mehta A, Keshav S, Fabry Outcome Survey European Investigators (2007). "Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy". Clin Gastroenterol Hepatol. 5 (12): 1447–53. doi:10.1016/j.cgh.2007.08.012. PMID 17919989.
- ↑ Linhart A, Lubanda JC, Palecek T, Bultas J, Karetová D, Ledvinová J; et al. (2001). "Cardiac manifestations in Fabry disease". J Inherit Metab Dis. 24 Suppl 2: 75–83, discussion 65. doi:10.1023/a:1012428009627. PMID 11758683.
- ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
- ↑ Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S; et al. (2016). "Musculoskeletal manifestations of Fabry disease: A retrospective study". Joint Bone Spine. 83 (4): 421–6. doi:10.1016/j.jbspin.2015.11.001. PMID 26697993.
- ↑ Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP; et al. (2015). "Fabry disease in infancy and early childhood: a systematic literature review". Genet Med. 17 (5): 323–30. doi:10.1038/gim.2014.120. PMID 25232851.
- ↑ Dinu IR, Firu ŞG (2021). "Fabry disease - current data and therapeutic approaches". Rom J Morphol Embryol. 62 (1): 5–11. doi:10.47162/RJME.62.1.01. PMC 8597377 Check
|pmc=value (help). PMID 34609404 Check|pmid=value (help). - ↑ Eyermann C, Raguin T, Rohmer D, Noel E, Charpiot A (2019). "Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation". Eur Ann Otorhinolaryngol Head Neck Dis. 136 (4): 273–279. doi:10.1016/j.anorl.2019.04.014. PMID 31072727.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290696.
- ↑ Dinu IR, Firu ŞG (2021). "Fabry disease - current data and therapeutic approaches". Rom J Morphol Embryol. 62 (1): 5–11. doi:10.47162/RJME.62.1.01. PMC 8597377 Check
|pmc=value (help). PMID 34609404 Check|pmid=value (help). - ↑ Svensson CK, Feldt-Rasmussen U, Backer V (2015). "Fabry disease, respiratory symptoms, and airway limitation - a systematic review". Eur Clin Respir J. 2. doi:10.3402/ecrj.v2.26721. PMC 4629719. PMID 26557248.