Have You Heard of This?

Fabry’s Disease. I’ve noticed some posts on Facebook about this and now I’ve been invited to join the Kidneys and Fabry’s Disease group on Facebook. It’s amazing timing since I had decided the day before being asked to join the group that I’d be writing about it for today’s blog. The fun part for me is that I know absolutely nothing about this disease, so I get to explore it. 

The first thing I learned is that it has multiple names. The National Organization for Rare Disorders (NORD) at https://rarediseases.org/rare-diseases/fabry-disease/ lists them as: 

  • “alpha-galactosidase A deficiency 
  • Anderson-Fabry disease 
  • angiokeratoma corporis diffusum 
  • angiokeratoma diffuse 
  • GLA deficiency” 

We’ll use the name Fabry’s Disease for this blog. 

Let’s start at the beginning with an explanation of what it is. You’re going to have to read this slowly and carefully… or, at least, I did. It’s from The National Fabry Disease Organization at https://www.fabrydisease.org/index.php/about-fabry-disease/what-is-fabry-disease

“Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide abbreviated GL-3 or GB-3. When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage. The cell damage causes a wide range of mild to severe symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age. Fabry disease is a progressive, destructive and potentially life-threatening disease. Fabry disease can affect males and females of all ethnic and cultural backgrounds.” 

That does not sound good. I wondered if there were symptoms. Remember that sometimes – like in my case – Chronic Kidney Disease doesn’t have symptoms. WebMd at https://www.webmd.com/a-to-z-guides/fabry-disease#1 tells us you may experience the following: 

“Pain and burning in your hands and feet that get worse with exercise, fever, hot weather, or when you’re tired 

Small, dark red spots usually found between your bellybutton and knees 

Cloudy vision 

Hearing loss 

Ringing in the ears 

Sweating less than normal 

Stomach pain, bowel movements right after eating” 

This is definitely something I wouldn’t want to play around with. Remember we discovered earlier in the blog that it’s genetic. That means you inherit it. Cedars-Sinai, a Los Angeles nonprofit academic healthcare organization at https://www.cedars-sinai.org/health-library/diseases-and-conditions/f/fabrys-disease.html informs us: 

“There is no cure for Fabry’s disease. However, in some cases the disease can be stopped from progressing if treated early enough. The first treatment generally is an enzyme replacement therapy which works to normalize the body’s ability to break down the fat.” 

Healthline (Yes, that Healthline) at https://www.healthline.com/health/fabry-disease explains that Fabry’s Disease can be very serious: 

“…. It’s progressive and can be life-threatening. People with FD have a damaged gene that leads to a shortage of an essential enzyme. The shortage results in a buildup of specific proteins in the body’s cells, causing damage to the: 

heart 

lungs 

kidneys 

skin 

brain 

stomach 

The disease affects both men and women in all ethnic groups, but men are usually more severely affected.” 

Hopefully, you noticed ‘kidneys’ in the list above. That is why I’ve included this disease in the kidney disease blogs. I want to remind you that this is a rare disease and that the purpose of the blog is to inform, not frighten. 

Further complicating our explanation is that there are two kinds of Fabry’s Disease. I turned to Fabry Disease News at https://fabrydiseasenews.com/type-2-fabry-disease/ for more information. 

“Fabry disease primarily has two recognized forms — type 1 (classical form) is the most severe and is associated with very little or no alpha-galactosidase activity, while type 2 (late-onset form) is milder with some residual enzyme activity.” 

This makes me think of Diabetes. Type 1 occurs when there is no insulin produced, while Type 2 occurs when there is insulin resistance and is a milder form of Diabetes. 

I wanted more about kidney disease and Fabry’s Disease so I kept poking around and I found it on The U.S. Department of Health and Human Services’ National Institutes of Health’s National Center for Advancing Translational Sciences’ Genetic and Rare Disease Information Center (That is one long title.) at https://bit.ly/325QD8K,  

ACE inhibitors may be used to treat decreased kidney function (renal insufficiency). ACE inhibitors can reduce the loss of protein in the urine (proteinuria). If kidney function continues to decrease dialysis and/or kidney transplantation may be necessary. A kidney transplanted successfully into a person with Fabry disease will remain free of the harmful build up of the fatty acid GL3 and therefore will restore normal kidney function. However it will not stop the buildup of GL3 in other organs or systems of the body. In addition, all potential donors that are relatives of the person with known Fabry disease should have their genetic status checked to make sure they do not have a pathogenic variant (mutation) in the GLA gene (even if they do not have symptoms).” 

Does this sound familiar? It’s also what can happen in CKD without involving the other organs, of course. 

The National Institute of Health’s National Institute of Neurological Disorders and Stroke at https://bit.ly/35RQ6Ze offers opportunities to join clinical trials and provides Fabry Disease patient organizations. The organizations listed presently are: 

Fabry Support & Information Group 

 
National Fabry Disease Foundation 

 
National Organization for Rare Disorders (NORD) 

 
National Tay-Sachs and Allied Diseases Association 

My head is spinning with all this new information right now and I suppose yours is, too. Maybe it’s time to stop and let us both digest it. 

Until next week, 

Keep living your life! 

Yet Another One

Chronic Kidney Disease awareness advocates have a tendency to hang out together online. One who has become a good buddy and happens to live in Hawaii (Now you see why we’re online buddies.), and I were going back and forth about how it’s important to be what I call a lifelong learner. To put it another way, someone who investigates that about which they don’t know. The timing was good.

A reader soon started communicating with me about tuberous sclerosis complex (TS). I was polite. I was patient. And I had no clue what this had to do with kidney disease, although the word “tuberous” caught my eye. By the way, Dictionary.com at https://www.dictionary.com defines tuberous as “characterized by the presence of rounded or wartlike prominences or tubers.” So I did what any curious, intelligent lifelong learner would do. I asked… and the response was an eye opener.

What she, the reader, sent me led to my going back to my old friend The National Institutes of Health’s U.S. National Library of Medicine. This definition is from their website at https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex,

“Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems.”

So, that’s the connection to kidney disease: tumor growth on the kidney… and, according to this definition, it’s genetic. It wasn’t mentioned there, but I remember thinking that it’s also a rare disease.

I thought I’d hop over to National Organization for Rare Diseases at https://rarediseases.org/rare-diseases/tuberous-sclerosis/ for more information, just in case it really was a rare disease. It’s a good thing I did because as it turned out, this is not only a genetic disease, but one that can also be caused by mutation:

“In many instances, an alteration causing tuberous sclerosis occurs as a new (sporadic or de novo) mutation, which means that the gene alteration has occurred at the time of the formation of the egg or sperm for that child only, and no other family member will be affected. The disorder is not inherited from or ‘carried’ by a healthy parent. However, such alterations can be passed on through dominant inheritance (where a trait is transmitted from either an affected mother or father to their child).”

I needed to know more so I poked around looking for the symptoms. My first stop was the ever reliable Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/symptoms-causes/syc-20365969 :

“Although the signs and symptoms are unique for each person with , they can include:

  • Skin abnormalities. Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.
  • Seizures. Growths in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
  • Cognitive disabilities. Tuberous sclerosis can be associated with developmental delays and sometimes intellectual disability or learning disabilities. Mental health disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
  • Behavioral problems. Common behavioral problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
  • Kidney problems. Most people with tuberous sclerosis develop noncancerous growths on their kidneys, and they may develop more growths as they age.
  • Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as the child gets older.
  • Lung problems. Growths that develop in the lungs may cause coughing or shortness of breath, especially with physical activity or exercise. These benign lung tumors occur more often in women than in men.
  • Eye abnormalities. Growths can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These noncancerous growths don’t always interfere with vision.”

Nope, not enough yet. Even though growths on the kidneys were mentioned, I wanted to know about diagnosing this rare disease. This time I turned to Healthline (Yes, the same Healthline that twice deemed this blog one of the top six kidney blogs.) at https://www.healthline.com/health/tuberous-sclerosis#diagnosis . This is what I found there:

“TS is diagnosed by genetic testing or a series of tests that includes:

an MRI of the brain

a CT scan of the head

an electrocardiogram

an echocardiogram

a kidney ultrasound

an eye exam

looking at your skin under an Wood’s lamp, which emits ultraviolet light”

But what about a cure or treatment? Is there any? According to MedicineNet at https://www.medicinenet.com/tuberous_sclerosis_complex_tsc/article.htm#how_is_tsc_treated ,

“There is no cure for TSC, although treatment is available for a number of the symptoms. Antiepileptic drugs may be used to control seizures. Vigabatrin is a particularly useful medication in TSC, and has been approved by the U.S. Food and Drug Administration (FDA) for treatment of infantile spasms in TSC, although it has significant side effects. The FDA has approved the drug everolimus (Afinitor®) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Specific medications may be prescribed for behavior problems. Intervention programs including special schooling and occupational therapy may benefit individuals with special needs and developmental issues. Surgery may be needed in case of complications connected to tubers, SEN or SEGA, as well as in risk of hemorrhage from kidney tumors. Respiratory insufficiency due to LAM can be treated with supplemental oxygen therapy or lung transplantation if severe.”

I find myself flabbergasted that, yet again, there is so much to learn for this particular lifelong learner. Wait, you should also know there is an association for those with the disease. It’s the Tuberous Sclerosis Alliance. The following link is for the page that explains how this disease affects the kidneys: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/kidneys/. Should you be newly diagnosed with this disease or know someone who has been, that’s where you find easily understood information and support. You can also click on to their home page if you want to know how it affects other parts of the body.

That is plenty to absorb for one day.

Until next week,

Keep living your life!