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Good news for a few


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sueb My cardiomyopathy is caused by Fabry Disease. Find out more about sueb
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  • Good news for a few

    One of the rarer causes of HCM is Fabry Disease, an inherited lack of an enzyme that breaks down red blood cells. The resulting "stuff" is deposited in the lysosomes of cells, most generally in heart and kidney cells. Today the FDA announced the approval of an enzyme replacement that actually may reverse the damage done by Fabry Disease; i.e., remove the "stuff" from heart, kidney and other cells, as well as prevent future deposits.

    I was just officially diagnosed with obstructive HCM, as opposed to just plain old HCM, two days ago (although I was pretty sure I was obstructed from what I learned on this board) so am glad to have some hope of relief. I'm not sure when I can get access to the enzyme; I'm hoping soon. My cariologist has already inquired about how to get it and where it could be administered. (My hero! :P ) If I can't get it or it doesn't work quickly, I will be asking you all about ablation.

    Hope this good news applies to more than just me on this board. Even if it doesn't, I just had to share my own good news! Hope everyone has something to be happy about today!


  • #2
    Re: Good news for a few

    Sue, how does one find out if they have Fabrey disease? Do you have that? If so, how did you find that out? Is that a known cause of hocm? I have never heard of it and I didn't know other medical problems cause hocm or hcm. What other medical condition cause hcm?


    • #3
      Re: Good news for a few

      Sue, you said that you were officially diagnosed with HOCM. Are you saying that you were once diagnosed with just HCM? Can it change? How does it change?



      • #4
        Re: Good news for a few

        Sue, I'm glad that there may be other options for you. Keep us posted.


        Husband has HCM.
        3 kids - ages 23, 21, & 19. All presently clear of HCM.


        • #5
          Re: Good news for a few

          As far as I know, "Obstructed" just means the thickened septum is interfering with blood outflow from the left ventrical... sometimes contacting the mitral valve and causing problems with it. I think of it as a 'swollen tounge' that keeps me from swallowing properly. If you have a procedure performed to reduce the septum, can't you go from having HOCM to HCM?
          I have read in many places that HCM is ALMOST always a genetic disease. No one ever really mentions what the exceptions are...they just say "it is possible to be the first one in your family tree to develop the mutation". Maybe this is one of those rare exceptions you never hear about?


          • #6
            Re: Good news for a few

            Dear All,

            Ok, WHOA!!! We need to clear up a couple of key points here. This is fantastic news, but it is ONLY for people who have Fabry's Disease. This DOES NOT WORK for regular HCM/HOCM.

            Think of it like this, when you have Fabry's, HCM is a symptom of the disease (a big one, but not the whole disease).

            What is Fabry's Disease?
            Fabry disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. The gene that is altered in this disorder is on the X-chromosome, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50 percent chance of having the condition, and her daughters have a 50 percent chance of being a carrier. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the males have small, raised, reddish-purple blemishes on their skin. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys become progressively involved, and many patients have required kidney transplantation or dialysis. A number of patients have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. This disorder is due to a deficiency of a lipid breakdown enzyme known as ceramidetrihexosidase, also called alpha-galactosidase A. Its function is to cleave to a molecule of galactose from a lipid that arises primarily from old red blood cells.
            from http://www.ninds.nih.gov/health_and_...fabrys_doc.htm

            SO---If you suspect you have Fabry's, you can get tested for it, get the enzyme and it will stop the disease from progressing. However, the percentage of people who have Fabry's is very, very small.

            As for HCM--it is genetic. All of HCM/HOCM is genetic. However, you can have left ventricular hypertrophy that is caused by other things. Whether it has been in your family always (diagnosed or not) or if there was a new mutation is besides the point. Either way, it is a genetic disorder. There are dozens of mutations that have already been identified that cause HCM. If you have HOCM and have a procedure to reduce the septal wall, you are relieving symptoms and increasing heart function but not getting rid of the underlying disease.

            The Fabry's treatment fixes the problem ONLY if you have Fabry's.

            Sue, your post implies that you have Fabry's, but is not entirely clear on this. Have you been diagnosed with Fabry's?

            take care,



            • #7
              Re: Good news for a few

              This is a very rare disorder and only accounts for a very small number of HCM patients. Some patients with Fabry's appear to have HCM, this is very rare and one should not think that this new advance is a cure for HCM, it is not, it is a treatment for Fabry's. WHile Fabry's may look like HCM in some it is NOT the same condition.

              The following is a reprint from the Fabry's support and information group.

              What is Fabry Disease:

              Fabry disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide.

              Metabolic Defect
              The body continuously performs metabolic processes which produce, recycle and remove vital compounds. In patients with Fabry disease one such common compound formed of three sugars and a fatty substance (globotriaosylceramide) does not get broken down due to the missing or non-functioning enzyme alpha galactosidase A. Sense this fatty compound (lipid) is not being broken down and removed it begins to accumulate. Thus, Fabry disease is often referred to as a "storage disorder" due to this abnormal accumulation. In patients with Fabry disease, this accumulation occurs primarily in the blood and in the walls of blood vessels. As the abnormal storage of this fatty compound increases with time, the channels of these vessels become narrowed, leading to decreased blood flow and decreased nourishment of the tissues normally supplied by these vessels. This abnormal process occurs in blood vessels throughout the body, particularly affecting vessels in the skin, kidneys, heart, brain and nervous system.

              Disease Inheritance
              Fabry disease is an inherited disorder. The defective gene is on the X-chromosome, which is one of the two chromosomes that determine an individual's sex. Females have two X chromosomes, one inherited from each of their parents. Males have one X chromosome inherited from their mother and one Y chromosome inherited from their father. A female with Fabry receive one X chromosome with a defective gene and one X chromosome with the normal gene, and thus often has some protection from the major manifestations of the disease. This is not always the case though as there is a high degree of variability in females. Males with Fabry disease receive only one abnormal X chromosome that contains the abnormal gene and thus express the disease.

              All male and female children of an affected female have a 50% chance of inheriting the defective gene from their mother. If the father is the one carrying the Fabry gene all female children will inherit the defective gene and all male children will not. The inheritance pattern of Fabry disease is called X-linked inheritance. Fabry disease occurs in all ethnic groups. It is estimated that one person in 40,000 has Fabry disease.

              Clinical Symptoms

              Typically, the disease begins in childhood with episodes of pain and burning sensations in the hands and feet. In addition, young patients often develop a spotted, dark red skin rash (angiokeratomas) seen most densely from the umbilicus to the knees, a decreased ability to perspire, and a characteristic change on the cornea of the eye which does not affect vision. The painful episodes may be brought on by exercise, fever, fatigue, stress, or change in weather conditions.
              The disease is slowly progressive and symptoms of kidney, heart and/or neurologic involvement usually occur between the ages of 30 to 45. Many patients are first diagnosed when the accumulated storage material begins to affect kidney or heart function. Therefore, it is important to annually monitor kidney function by blood and urine tests because kidney disease is a major complication that can occur in affected males.

              A common heart symptom in Fabry patients is mitral valve prolapse, which is a benign condition that is present in approximately 10% of the normal population. More serious, but rarer, complications of Fabry disease include heart disease and strokes.

              Other symptoms may include varying degrees of abdominal discomfort, frequent bowel movements shortly after eating, joint pain, back pain primarily in the kidney region or ringing of the ears (tinnitus).

              Females may show a wide range of clinical manifestations. Some individuals remain completely asymptomatic and have normal levels of a gal a while some are as severely affected as hemizygous males. This variability is most likely to be caused by random inactivation of one copy of the X-chromosome in each cell. The most common symptom of Fabry disease seen in heterozygous females is corneal dystrophy, which occurs in around 70% of females. Other symptoms that have been reported in females with Fabry disease include: angiokeratomas, acroparesthesias, anhidrosis, gastrointestinal disturbances, vascular lesions in the conjunctiva and retina, kidney disease, autonomic and other neurological complications such as tinnitus and vertigo, cardiovascular abnormalities, cerebrovascular abnormalities, fatigue. Women may often be misdiagnosed as having lupus or other conditions.

              Although the signs and symptoms of Fabry disease generally appear during childhood, the diagnosis may often be missed. The earliest symptoms of Fabry disease in children are usually pain and angiokeratomas. The pain may, however, be dismissed as 'growing pains', while angiokeratomas may be overlooked during a routine clinical examination, particularly if they are confined to locations such as the backs of the ears. Cardiac and renal involvement can also begin in childhood, thus early diagnosis and careful monitoring are necessary. Other symptoms include Hypohidrosis (inability to sweat), GI symptoms that mimic chronic inflammatory bowel disease, recurrent nausea and vomiting, vertigo, tinnitus, headaches, fevers.

              Pain associated with Fabry disease can be difficult to treat but usually responds to medications such as Tegretol (carbamazepine), Dilatin or Neurotin. Metoclopramide, Lipisorb (a nutritional supplement), Pancrelipase may be beneficial in treating Gastrointestinal hyperactivity. Early experiments with enzyme replacement therapy indicate promising results.
              Knowledge is power ... Stay informed!
              YOU can make a difference - all you have to do is try!

              Dx age 12 current age 46 and counting!
              lost: 5 family members to HCM (SCD, Stroke, CHF)
              Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
              Therapy - ICD (implanted 97, 01, 04 and 11, medication
              Currently not obstructed
              Complications - unnecessary pacemaker and stroke (unrelated to each other)


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