Which are the symptoms of Acatalasemia?

Symptoms of Acatalasemia

Acatalasemia is a rare genetic disorder characterized by the absence or reduced levels of the enzyme catalase in the body. Catalase plays a crucial role in breaking down hydrogen peroxide, a harmful byproduct of metabolism, into water and oxygen. Without sufficient catalase, hydrogen peroxide accumulates and can cause oxidative damage to cells and tissues.

Oral Symptoms:

One of the most noticeable symptoms of acatalasemia is oral health-related issues. Individuals with this condition often experience recurrent oral ulcers, which are painful sores that can develop on the tongue, gums, or inside the cheeks. These ulcers may be slow to heal and can cause discomfort while eating or speaking.

Periodontal Problems:

Acatalasemia can also lead to periodontal problems, including gum inflammation (gingivitis) and gum bleeding. The gums may appear red, swollen, and tender. In severe cases, periodontitis, a more advanced form of gum disease, can develop, leading to gum recession, tooth loss, and bone damage.

Easy Bruising:

Another common symptom of acatalasemia is easy bruising. Due to the impaired ability to break down hydrogen peroxide, blood vessels may become more fragile, leading to easy bruising even with minor trauma or pressure. Bruises may appear larger, take longer to heal, and be more widespread than usual.

Delayed Wound Healing:

Individuals with acatalasemia may experience delayed wound healing. The accumulation of hydrogen peroxide can impair the normal healing process, making cuts, scrapes, or surgical incisions take longer to close and heal. This can increase the risk of infections and complications.

Increased Susceptibility to Infections:

Acatalasemia can weaken the immune system, making affected individuals more susceptible to infections. The oxidative stress caused by the accumulation of hydrogen peroxide can impair the function of immune cells, reducing their ability to fight off pathogens. As a result, individuals with acatalasemia may experience more frequent or severe infections.

Eye Abnormalities:

In some cases, acatalasemia can lead to eye abnormalities. These may include cataracts, which cause clouding of the lens and can impair vision, and retinal abnormalities, which can affect visual acuity and color perception.

Other Symptoms:

While less common, acatalasemia may also present with other symptoms such as hair depigmentation (graying or whitening of hair), nail abnormalities, and gastrointestinal issues like diarrhea or abdominal pain.

It is important to note that the severity and specific symptoms of acatalasemia can vary among individuals. Some individuals may have mild symptoms or be asymptomatic, while others may experience more pronounced manifestations of the condition.