Tag: Genetic mutation

For decades, treatment for lymphatic malformation (LM) primarily relied on surgery and sclerotherapy, which often proved challenging due to the lesion's nature and location. However, recent advancements, driven by a deeper understanding of the underlying genetic causes, have ushered in a new era of highly effective targeted and systemic therapies for lymphatic malformation. These innovative treatments, particularly oral medications like sirolimus and alpelisib, are transforming patient outcomes and reducing dependence on invasive procedures.

Affecting approximately one in every 100,000 people, Gould syndrome is a rare genetic multi-system disorder caused by mutations in the COL4A1 or COL4A2 genes. Understanding what is Gould syndrome is a crucial first step for families and individuals navigating this complex condition, which can impact the brain, eyes, and other vital organs.

Hemophilia is a rare inherited bleeding disorder in which the blood does not clot properly, and is most commonly caused by an inherited genetic mutation. Approximately one-third of diagnosed cases, however, are caused by a spontaneous new mutation. There are also rare instances of acquired hemophilia where the immune system attacks a person's own clotting factors.

While medical records contain no official diagnosis known as **Gazman syndrome**, it is a common misspelling of Gitelman syndrome, a rare inherited kidney disorder that affects approximately 1 in 40,000 individuals worldwide. Patients with Gitelman syndrome experience an imbalance of crucial electrolytes due to impaired kidney function. Understanding this condition is vital for proper diagnosis and management.

With more than 500 cases of Erdheim-Chester disease (ECD) reported in medical literature as of 2017, this extremely rare blood cancer is often confused with other conditions, including the unrelated Ehlers-Danlos syndrome. The query 'What is the Ehlers Chester disease?' is a common misspelling that refers to the rare and slow-growing blood cancer known correctly as Erdheim-Chester disease (ECD).

Affecting fewer than 1 in 1 million people worldwide, Proteus syndrome is a profoundly rare genetic disorder. Therefore, the search query 'how to get Proteus syndrome?' stems from a fundamental misunderstanding, as it is not a contagious or preventable condition, but a spontaneous genetic event that occurs randomly during fetal development.

While a specific condition known as 'Eldens' disease does not exist in medical literature, the term is a common misspelling that likely refers to Ehlers-Danlos syndromes (EDS), a group of rare, inherited disorders that affect connective tissues. The confusion may also stem from online searches related to the fictional “Scarlet Rot” ailment in the popular video game *Elden Ring*.

According to the Mayo Clinic, polycythemia vera is a rare blood disorder that most often affects individuals over the age of 60. As a form of blood cancer, understanding **who is most likely to get polycythemia vera** is critical for recognizing potential risk factors and seeking early medical evaluation.

According to the Cystic Fibrosis Foundation, while most CF diagnoses occur in infancy, a growing number of cases are being identified in adulthood, with approximately 12% to 18% of CF patients diagnosed after age 18. The answer to **can cystic fibrosis develop later in life** is a bit more complex, as the genetic mutations causing the disease are present from birth, but the symptoms may not become apparent until adulthood.

By design, the human body does not reject folic acid in a typical allergic or foreign-substance manner; instead, it processes it as a nutrient. However, some individuals face genetic challenges that make proper metabolism of folic acid difficult, which can feel like a form of 'rejection.'