Anderson-Fabry disease: types, signs and symptoms, diagnosis, treatment, rare genetic disorder affecting the organs

Anderson-Fabry disease (AFD) is a rare genetic problem that can affect different parts of the body but one area that is most severely affected is the kidneys and can lead to a serious condition called end stage kidney disease (ESKD). Is. It is very important to understand how this rare disorder, Anderson-Fabry disease, specifically affects the kidneys, leading to end-stage kidney disease and that catching it early and taking a well-informed approach can help people survive this rare genetic problem. Helps in managing and maintaining. Good quality of life.

In an interview with HT Lifestyle, Dr Prakash Chandra Shetty, urologist at Dr LH Hiranandani Hospital in Powai, Mumbai, shared, “In AFD, there is a deficiency of a particular enzyme called alpha-galactosidase A. Due to this, a fatty substance called globotriaosylceramide is formed. (GB3) starts accumulating in cells throughout the body. Over time this accumulation can damage the kidneys and eventually lead to ESKD. ESKD is like the last stage of kidney problems where the kidneys are unable to perform their vital functions properly. With AFD, this means that GB3 accumulation makes it harder for the kidneys to filter waste and excess fluid from the blood.

Talking about the symptoms, he revealed, “People with AFD may experience symptoms such as having too much protein in their urine (called proteinuria), seeing blood in their urine (hematuria) and a slow decrease in the amount of urine they urinate. Can be visible. These signs indicate that the kidneys are not functioning properly, and it is important to get timely help. When someone has Anderson-Fabry disease, a complete plan is needed to deal with ESKD. This may include receiving a new kidney through a transplant or using dialysis to replace lost kidney function. Additionally, treating the underlying cause of AFD with enzyme replacement therapy (ERT) can slow kidney damage.’

Dr. Mitesh Shetty, HOD and consultant in medical genetics at Manipal Hospital on Old Airport Road, Bengaluru, said that Anderson-Fabry disease is a rare genetic disorder caused by the deficiency of an enzyme called α-Gal A and highlighted that There are two types of Fabry disease:

1. Type 1 Classic type (<1% α-Gal A enzyme activity); Males usually 4-8 years - Pain is an early sign that may appear as early as 2-8 years of age. Affected people may experience intense burning sensation in the hands and feet. Severe pain episodes may last for hours or days and are often triggered by exercise, stress, or fever. Additional symptoms include red to dark blue skin rashes, especially between the hips and 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 their third decade – Symptoms include cardiovascular disease, such as left ventricular hypertrophy, cardiomyopathy, arrhythmias, and proteinuria; Symptoms include kidney failure, stroke, or transient ischemic attack, but without pain or skin abnormalities. Type 2 occurs more frequently than the type 1 phenotype.

According to him, 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. Regarding its origin, Dr. Mitesh Shetty said, “Fabry disease is inherited in an X-linked manner and is caused by mutations in the GLA gene. Men with the mutation will be affected while women with the mutation (carriers) are at risk of developing the disease, but it progresses milder and more slowly than in men.

He added, “Newborn screening studies have identified affected males by demonstrating reduced α-Gal A activity in dried blood spots following GLA gene sequencing. Once the mutation is confirmed, initiate appropriate supportive management as soon 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 (embryo testing) may be offered to prevent the condition in future pregnancies.