Anderson-Fabry Disease (AFD) is a rare genetic problem that can affect different parts of the body but one area that gets hit hard is the kidneys and can lead to a serious condition called End Stage Kidney Disease (ESKD). It is very important to understand how this rare disorder, Anderson-Fabry Disease, specifically affects the kidneys, leading to End Stage Kidney Disease and catching it early and having a well-thought-out approach helps people manage this rare genetic problem and keep a good quality of life.

Anderson-Fabry Disease: Types, signs and symptoms, diagnosis, treatment of rare genetic disorder that affects organs (Photo by fabrydiseasenews.com)
Anderson-Fabry Disease: Types, signs and symptoms, diagnosis, treatment of rare genetic disorder that affects organs (Photo by fabrydiseasenews.com)

In an interview with HT Lifestyle, Dr Prakash Chandra Shetty, Urologist at Dr LH Hiranandani Hospital in Mumbai’s Powai, shared, “In AFD, there’s a shortage of a special enzyme called alpha-galactosidase A. Due to this, a fatty substance called globotriaosylceramide (Gb3) starts piling up in cells all over the body. This buildup over time can mess up the kidneys and eventually cause ESKD. ESKD is like the final stage of kidney problems where the kidneys can’t do their important jobs properly. With AFD, it means that the accumulating Gb3 makes it harder for the kidneys to filter out waste and extra fluids from the blood.”

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Talking about the symptoms, he revealed, “People with AFD might notice signs like having too much protein in their urine (called proteinuria), seeing blood in their urine (hematuria) and a slow decrease in how much they pee. These signs indicate that the kidneys are not working well, and it is crucial to get help in time. Dealing with ESKD when someone has Anderson-Fabry Disease needs a full-on plan. This might involve getting a new kidney through a transplant or using dialysis to replace the kidney’s lost functions. Also, treating the main issue of AFD with something called enzyme replacement therapy (ERT) can slow down kidney damage.”

Dr Mitesh Shetty, HOD and Consultant – Medical Genetics at Manipal Hospital in Bangalore’s Old Airport Road, echoed that Anderson-Fabry disease is a rare genetic disorder that is caused due to the deficiency of an enzyme called α-Gal A and highlighted that there are two types of Fabry’s disease:

  1. Type 1 Classic type (<1% α-Gal A enzyme activity); Males usually 4-8 years – Pain is an early sign that can present as early as 2-8 years of age. Affected people may experience acute burning pain in their hands and feet. Severe pain episodes can continue for hours or days and are frequently provoked by exercise, stress, or fever. Additional symptoms include reddish to dark-blue skin rash, particularly between the hips and the knees, hearing loss, clouding of the cornea, proteinuria, and end-stage kidney failure.
  2. Type 2 Late onset (>1% α-Gal A enzyme activity); Males usually in third decade – Symptom includes Cardiovascular illness, such as left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, stroke, or transient ischemic attack, but without pain or skin abnormalities are characteristics. The type 2 is more frequent than the type 1 phenotype.

According to him, the symptomatic treatment includes medication for pain, kidney transplantation for ESKD, enzyme replacement therapy (ERT) to prevent or delay the progression of renal, cardiac and cerebrovascular manifestations. As for it’s origin, Dr Mitesh Shetty said, “Fabry’s disease is inherited in an X-linked manner and is caused by mutations in the GLA gene. Males with the mutation will be affected while females with the mutation (carrier) are at risk of developing the disease but this tends to be milder and more slowly progressive than in males.”

He added, “Newborn screening studies have identified affected males by demonstrating the reduced α-Gal A activity in dried blood spots followed by GLA gene sequencing. Once the mutation is confirmed then initiate appropriate supportive management as early as possible in affected individuals. Genetic counseling is recommended for affected individuals and their families. Pre-implantation Genetic testing – PGT (embryo testing) and Prenatal Diagnosis (fetus testing) can be offered to prevent the condition in future pregnancies.”


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