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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Please Suggest Treatment For Fabry Disease

We are a family with fabry disease, which is deficiency in Alpha- galactosidase A. I have persistant runny nose and skin patches that different doctors diagnosed differently. some said it is eczema while others said it is psoriasis. The skin condition comes and goes. but runny nose is persistant. I have done all food allergy testing and other allergy testing and all were negative. Does the enzyme deficiency I have affect this condition?
Mon, 18 Aug 2014
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Pediatrician 's  Response
I am glad that you have put up your query at HealthCareMagic. Fabry disease is a genetically transmitted rare disease characterised by the deficiency in an enzyme called alpha-galactosidase A which causes a glycolipid known as globotriaosylceramide to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of their proper function.

Skin manifestations include angiokeratomas (tiny, painless slightly raised structures that can appear on any region of the body, but are predominant on the thighs, around the belly-button, buttocks, lower abdomen, and groin) are a common symptom. Lack of sweating is also a common symptom, and less commonly excessive sweating may occur. Additionally, patients can exhibit Raynaud's disease-like symptoms with neuropathy (in particular, burning extremity pain).

The skin conditions that you mention seem to be directly related to Fabry disease wherein globotriaosylceramides have accumulated in your skin and is causing the symptoms. Since this is a rare disease and rare diseases rarely occur, doctors tend to ignore the associations and many of them are giving different opinions. So, I guess that you too have to ignore diagnoses like psoriasis since you already have a more likely diagnosis of Fabry.

The runny nose may or may not be related and I would need further details to evaluate the matter. A total leucocyte count of blood along with the differential count, especially the eosinophil count should be helpful. You may let me know the details and I would be happy to help further. Alternatively, you might consult a doctor with adequate experience.
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Please Suggest Treatment For Fabry Disease

I am glad that you have put up your query at HealthCareMagic. Fabry disease is a genetically transmitted rare disease characterised by the deficiency in an enzyme called alpha-galactosidase A which causes a glycolipid known as globotriaosylceramide to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of their proper function. Skin manifestations include angiokeratomas (tiny, painless slightly raised structures that can appear on any region of the body, but are predominant on the thighs, around the belly-button, buttocks, lower abdomen, and groin) are a common symptom. Lack of sweating is also a common symptom, and less commonly excessive sweating may occur. Additionally, patients can exhibit Raynaud s disease-like symptoms with neuropathy (in particular, burning extremity pain). The skin conditions that you mention seem to be directly related to Fabry disease wherein globotriaosylceramides have accumulated in your skin and is causing the symptoms. Since this is a rare disease and rare diseases rarely occur, doctors tend to ignore the associations and many of them are giving different opinions. So, I guess that you too have to ignore diagnoses like psoriasis since you already have a more likely diagnosis of Fabry. The runny nose may or may not be related and I would need further details to evaluate the matter. A total leucocyte count of blood along with the differential count, especially the eosinophil count should be helpful. You may let me know the details and I would be happy to help further. Alternatively, you might consult a doctor with adequate experience.