Which of the following is a potential serious outcome of untreated Fabry Disease?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

A potential serious outcome of untreated Fabry Disease is end-stage renal disease. Fabry Disease is a genetic disorder caused by the deficiency of an enzyme called alpha-galactosidase A, leading to the accumulation of a substance called globotriaosylceramide in various tissues. This accumulation primarily affects the kidneys, heart, and skin, among other systems.

In the kidneys, the buildup of this substance can lead to progressive kidney damage over time. As the disease advances, patients may experience reduced kidney function, which can ultimately progress to end-stage renal disease. This is a serious condition requiring dialysis or kidney transplantation, highlighting the importance of early diagnosis and treatment in managing Fabry Disease to prevent such severe complications.

The other options do not have a direct connection to Fabry Disease. Heart valve prolapse is not a documented complication specifically associated with Fabry Disease; while related cardiovascular issues may arise, they are not directly linked to the disease in the same way renal complications are. Hyperthyroidism and Type 1 diabetes are unrelated endocrine disorders not caused by Fabry Disease.

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