Fanconi Anemia (Pediatric Nursing)

00:01 Now let’s talk about Fanconi anemia, this is a rare genetic disease resulting in an impaired response to DNA damage.

00:07 Fanconi anemia occurs in about 1 per 130,000 births with a higher frequency in the Ashkenazi Jewish population in Israel and Afrikaners in South Africa.

00:18 What are the hallmarks? Well the first is characterized by bone marrow failure.

00:22 This is the inability to produce new cells and this usually develops by the age of 40.

00:27 Patients will often develop acute myelogenous leukemia or AML.

00:31 They will also have solid tumor development and there are other congenital abnormalities including a short stature, abnormalities of the skin, arms, head, eyes, kidneys, ears and certain developmental disabilities.

00:46 In the year 2000, the life expectancy of a patient with Fanconi anemia was 30 years old.

00:51 Fanconi anemia is most often inherited in an autosomal recessive pattern which means both copies of the gene have to have the mutations for the disease to be present.

01:01 If a patient has only one mutated gene, they are considered carriers and they typically do not show any signs and symptoms of this condition.

01:08 As you can see here, both parents are carriers.

01:11 With each pregnancy, the odds they will have an affected child, so with both mutated genes is 25%.

01:18 and the odds of having a child who receives 1 mutated gene and as a carrier is 50% and the odds of having a completely unaffected child without any gene mutations is 25%.

01:30 Remember these odds reset with each pregnancy and each child has the same odds regardless of the status of their siblings.

01:37 What are the signs of symptoms of Fanconi anemia? Well your patient may have petechiae and remember these are the small pinpoint hemorrhages usually smaller than 2 millimeters.

01:46 Your patient may be pale and this is due to the decrease in red blood cells.

01:51 Same reason, your patient will have fatigue.

01:53 Your patient can get frequent infections and this is because they have a suppressed immune system and decreased white blood cells They may be born with abnormal thumbs and absent radiii in their forearms.

02:04 These patients will have a short stature and can have strabismus in their eyes.

02:10 They may have low set ears and deafness, and hypopigmentation of the skin.

02:15 Patients can also have a hyperpigmented cafe-au-lait spot.

02:20 They may have abnormal facial features and abnormal kidneys.

02:24 So how do we treat Fanconi anemia? Well the first-line therapy is with androgens and hematopoeitic growth factors but these are only effective about 50 to 75% of the time.

02:35 A more permanent cure is a hematopoeitic stem cell transplant but this is a high-risk procedure that comes with its own set of potential complications.