Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bouts of shooting pain along the extremities are common in the early stages of Fabry's disease. No pathological explanation has been advanced to clarify the mechanism of such pain. In the present case neuronal storage of glycolipid was confined to dorsal root ganglia neurones only. It is suggested that this may explain the shooting pain in Fabry's disease. In hereditary sensory radicular neuropathy, familial dysautonomia, and tabes dorsalis, changes in dorsal root ganglia cells cause similar clinical signs and thus it may be concluded that shooting pains in Fabry's disease may be caused by damage to dorsal root ganglia neurones.
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PMID:Involvement of dorsal root ganglia in Fabry's disease. 641 95

In a case of Fabry's disease, microscopic, ultrastructural, and biochemical studies of a muscle biopsy were performed, as well as microscopic, ultrastructural, and morphometric studies of a nerve biopsy. Pleomorphic lipid inclusions were observed in muscle fibers, fibroblasts, and endomysial capillaries. Moreover, the thermolabile isoenzyme A of alpha-D-galactosidase was almost completely absent. In the nerve specimen, polymorphous lysosomes were noted in perineural cells, in fibroblasts, and in endothelial and perithelial cells in association with some nonspecific degenerative changes. The morphometric data revealed a loss of large myelinated fibers, an uncommon finding in Fabry's disease, and a decrease of the average diameter of the unmyelinated fibers, which was related to axonal sprouting. The relationship between the pain attacks and the increased number of the small unmyelinated fibers is discussed.
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PMID:Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease. 679 67

Previous reports of extensive lipid accumulation within neurons of the autonomic nervous system in Fabry disease suggest an anatomicopathologic basis for the peculiar pain, diminished sweating, and gastrointestinal symptoms experienced in this disorder. To further assess autonomic function in Fabry disease, noninvasive clinical tests were performed on 10 patients. Diminished sweating was found in each; the loss was approximately uniform proximally and distally, suggesting sweat gland dysfunction rather than autonomic neuropathy. Impaired pupillary constriction with pilocarpine, and reduced saliva and tear formation were found in half the patients. Disordered intestinal mobility was demonstrated in the oldest patients. In all cases, the cutaneous flare response to scratch and intradermal histamine was diminished, and pruritus was not experienced. Signs of autonomic dysfunction are present in Fabry disease and correlate with the known lipid deposition in autonomic neurons.
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PMID:Fabry disease: impaired autonomic function. 680 89

A patient is described, admitted to the clinic on the occasion of proteinuria, edemas and arterial hypertension. The clinical and paraclinical data formed the picture of a renal involvement of mainly glomerular type with proteinuria to 5 gr%0, nonselective type, edemas, hypertension and data of chronic renal insufficiency I degree (serum creatinine to 3.8%, blood urea to 112 mg%). What impresses are the extrarenal manifestations as paresthesia of the lower limbs, with a sense of numbness to acute burning pain, a rich psychonervous symptomatics. The skin efflorescence, followed up and observed at the clinic of dermatology and the puncture biopsy material from the kidney revealed specific signs of Fabry syndrome.
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PMID:[Case of Fabry's disease]. 681 15

This report concerns an 18-year-old boy who is hemizygote for Fabry's disease. Varying degrees of nonpulsating headache crises, lasting from a few hours to several days, began when he was 16 years of age. Painful crises in the extremities, characteristic of Fabry's disease, were not present. Although only occasional, he had several episodes of throbbing headache with vomiting without aura. The meningeal signs were equivocal, although the patient had noninfectious pleocytosis, intracranial hypertension, delayed radioisotope clearance on cisternography, and multiple old cerebral infarcts. Nonsteroidal anti-inflammatory drugs, antidepressants, carbamazepine, and glycerol were of no benefit for his headache. Although its mode of action remains obscure, prednisolone was effective for treating the headache and the aseptic meningeal reaction.
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PMID:Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. 759 47

Fabry disease is an X-linked disorder characterized in childhood by angiokeratoma, corneal opacities, and pain. At age 7 years our patient began experiencing an intermittent intense "burning" sensation within his feet and hands (acroparesthesias). Treatment with aspirin, acetaminophen, acetominophen with codeine, and phenytoin was unsuccessful. Carbamazepine and phenytoin reduced the frequency and duration of painful crises to 3-4 times annually. A treatment plan was developed consisting of a low-dose morphine infusion with increasing dosage until pain was relieved. Over the subsequent 28 months, we have had experienced treating 7 crises with morphine given as 0.06 mg/kg IV push, followed by a continuous infusion of 0.02 mg/kg/hr with amitriptyline 0.25 mg/kg at bedtime. Pain control is immediate, with the infusion gradually tapered after 24 hours.
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PMID:Successful treatment of painful crises of Fabry disease with low dose morphine. 855 70

A patient with previously diagnosed Fabry's disease and a long history of post-prandial abdominal pain died following small bowel infarction. Post-mortem demonstrated Fabry's type deposits in the small vessels and nerves supplying the bowel but in addition, a localized atheromatous stenosis of the superior mesenteric artery. In retrospect, his terminal illness and possibly his chronic symptoms were related to the latter finding. Angioplasty to the superior mesenteric artery may have been of benefit. Mesenteric angiography should be considered in patients with chronic post-prandial pain because large vessel disease may coexist with other a priori pathologies and is imminently treatable.
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PMID:Small bowel ischaemia in Fabry's disease. 800 56

The differential diagnosis of erythermalgia is sometimes complicated by the absence of consensus on proposed diagnostic criteria. Unwarranted diagnosis can result from any clinical situation leading to burning sensations in the limbs. This can occurs in patients with peripheral neuropathies who often experience dysesthesia when going to bed when the legs are under the covers; in such cases, redness and local warmth are missing. Venous insufficiency can also produce sensations of warm feet, often at retiring, together with edema and an increase in local heat. Algodystrophy, during the inflammatory phase can also mimic erythermalgia with intense pain and local modifications. Nevertheless, the unilateral aspect and persistence of the symptoms together with the post-traumatic situation usually directs the diagnosis. Acrodynia is a rare disease caused by excessive mercury intake and should be discussed in children. Vasomotor impairment in the limbs is the main sign. The red color of the hands and feet is accompanied by intense paroxysmal burn-type pain. The diagnosis is confirmed by high mercury levels in urine. Fabry's disease is a hereditary sphingolipidosis transmitted on chromosome X and occurs predominantly in men, often starting early in childhood with burning sensation in the limbs. The diagnosis should be entertained in children with pseudo-erythermalgia and is confirmed by chromatographic search for abnormal sphingolipids in the urine.
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PMID:[False erythermalgia]. 875 87

We investigated 16 patients with Fabry's disease (eight hemizygous men and eight heterozygous women) in one family. We used constant current perception threshold (CPT) testing, which evaluated three major sensory nerve fiber populations, to assess subjective complaints of pain and paresthesias. We also examined clinical and biochemical features and compared the values of CPTs and nerve conduction studies (NCS) in detecting the sensory neuropathy. Our results showed that CPT testing at low frequencies (5 and 250 Hz) was significantly more sensitive than at a higher frequency (2 kHz) and NCS in detecting sensory neuropathy in patients with Fabry's disease. However, there was no correlation between CPT testing and clinical symptom scores, duration of disease, creatinine clearance (Ccr) values or alpha-galactosidase A (AGA) activities in either hemizygous or heterozygous patients. Hemizygous patients clinically demonstrated more severe symptom scores, poorer renal function, and higher prevalence of hypohidrosis and corpora angiokeratomas than did heterozygous patients, which indicates that detailed clinical examinations can differentiate the clinical status of hemizygous men from heterozygous women. There were no associations between the biochemical levels of serum AGA activity and renal function (Ccr values) or the symptom scores (grading of acroparesthesia), indicating that biochemical parameters do not predict clinical severity.
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PMID:Current perception threshold testing in Fabry's disease. 1051 30

In Fabry disease, an X-linked alpha-galactosidase A deficiency, painful crises and limb paresthesias are possibly linked to thermal exposure. Small nerve fiber function has not yet been tested after cold challenge. In two Fabry patients (15 and 17 years old), their heterozygote mother, their healthy sister, and eight controls, we determined warm and cold perception thresholds at the dorsal foot and the lower medial calf (method of limits, Somedic-Thermotest), before and 1, 5, 10 and 15 min after 30 s immersion of one leg into 5 degrees C water. Discomfort was rated from 0 to 10. At baseline, thermal thresholds of all participants were normal. In contrast to controls, the patients tolerated 30 s cold stimulation only with interruptions. The mother aborted stimulation after 6 s because of pain. The patients and their mother reported intense burning pain and numbness during and after stimulation. After cold exposure, thermal sensation was highly abnormal for 20 min in one and 80 min in the other brother. In controls, thermal thresholds were somewhat elevated after stimulation but normalized within 10.0+/-4.6 min. Discomfort during cold exposure was rated 8-10 by the patients and their mother, but 3-5 by the healthy persons. We assume that glycolipid accumulation in cutaneous and vasa nervorum vessels as well as small nerve axons accounts for skin and small fiber malperfusion during cold induced vasoconstriction. Transitory ischemia initiated burning pain and prolonged small fiber dysfunction.
Pain 2000 Feb
PMID:Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. 1066 42


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