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CHRISTMAS-RELATED DISEASES YOU NEED TO KNOW THIS FESTIVE SEASON

We're back with some mind-blowing diseases for this Christmas season!


HO! HO! HO! MERRY CHRISTMAS!

The period of Christmas and new year is a minefield of food and festivities and parties.

But, taking off our Christmas party hats for a moment(tsk tsk) and putting on our health hats, we thought we’d let you know about a few Christmas related diseases we found.

Very un-Christmassy, I know!


Well then, without further ado let's get into 4 Christmas-related diseases that will blow your mind this season. We also hope this will give our fellow medicine peers something to talk about at your workplace.



1. Christmas disease




I believe this is a term all the medical students and professionals are familiar with. Hemophilia B, also called Christmas disease. Now, you’d think it was because it was diagnosed around Christmas but no. Christmas disease was named after the person who was first diagnosed in 1952- Stephen Christmas.


However, hemophilia has also been called “royal disease”. The hemophilia gene is said to have been passed down through the generations from Queen Victoria who acquired it due to a mutation. Through queen Victoria, the disorder was passed down to royal families of Russia, Germany and Spain.


Pathogenesis:


Hemophilia is a genetic bleeding disorder. It is divided into hemophilia A, hemophilia B and hemophilia C.





Hemophilia B is caused due to deficiency of factor IX of the clotting factors. This causes decreased and slowing of clot formation. Clot formation is necessary to seal off a wound to prevent loss of blood. It is necessary for the healing of any injury in the body.


Hemophilia B is the 2nd most common type of hemophilia affecting approximately 1 in 25000 male births.

Hemophilia is nothing but a bleeding disorder. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts, dental procedures or trauma. The amount of Factor IX in the blood determines how frequently a person bleeds and how seriously.

Normal plasma levels of FIX range from 50% to 150%. Levels below 50%, or half of what is needed to form a clot, determine a person’s symptoms.

Treatment :

Concentrated Factor IX product is used to treat hemophilia B. Recombinant factor products are developed in a lab by using DNA technology and human-derived pools of donor-sourced plasma. Prophylaxis using factor IX products are optimal for children with severe hemophilia B.


An antibody called an inhibitor is developed in as much as 1/3rd of the population having hemophilia against the blood products used for treatment. Thus Treatment of bleeding becomes extremely difficult, and the cost of care can highly increase. People with these inhibitors are at a higher risk for complications as well. Thus hemophilia inhibitor research study is ongoing to find out more about them


Further research:


As part of the Inhibitor Study, the Centers for Disease Control and Prevention (CDC) has gathered a list of all of the mutations reported to cause hemophilia worldwide. More than 2,000 mutations have been reported in the factor VIII gene and more than 1,000 in factor IX. The mutation that a person has determines how much clotting factor is produced and how well it works. Knowing the mutation that a person with hemophilia has is important for genetic testing of family members. It also can help predict how likely it is that a person will develop an inhibitor.


Therefore, many such studies are ongoing to help in the treatment of hemophilia.








2. Christmas tree diseases -rashes? cataract?




Ever heard of Christmas tree diseases? These diseases, though named so, are not transmitted from the Christmas tree itself but because of their reasons that we will speak about further.


CHRISTMAS TREE CATARACT:

Accelerated breakdown of membrane-associated denatured proteins caused by increased calcium levels causes this rare age-related disease.

Organization of proteins within the membrane gap junctions are disturbed due to hypercalcemia thus affecting the ease with which substances can pass from one lens cell to another.



It has been shown that lenses with extremely high calcium concentrations form dense precipitates of calcium salts whereas lenses with moderate calcium concentrations undergo protein aggregation. it is plausible to say that any medical disease causing hypercalcemia can increase the risk of developing a Christmas Tree Cataract.



Due to the refractive, colorful nature of the cataract when observed, it often gives the appearance of colored lights on the branches of a Christmas tree. Most of the time, a CTC is visually non-disturbing and is often monitored until other forms of cataract worsen and cause visually symptomatic effects.


Christmas tree cataract is also associated with myotonic dystrophy.

A retrospective review of 23 patients having myotonic dystrophy 1(DM 1)revealed ctc in 56% cases-unilateral in maximum of them and asymmetrically bilateral in remaining. CTC was found to be the first sign of diagnosis in almost half the cases.

With this knowledge, detection of a Christmas Tree Cataract on routine exam should necessitate a referral for neuromuscular assessment, since nearly half of the patients with DM1 are asymptomatic and a CTC is the first sign of the disease.


Treatment: like any other cataract, it is also removed surgically. Traditional cataract surgery is preferred.




CHRISTMAS TREE RASH:

Pityriasis rosea. It is an oval shaped skin patch that may be present in various parts of the body. Although it affects all, common ages are between 10 and 35yrs.



These patches are smaller than the herald patch — they range from 1 to 2 cm — and are often called “daughter” patches. They develop in a pattern that resembles sagging Christmas tree branches.



‘The reason for the occurrence is unknown. Although the rash can resemble hives or a skin reaction, it’s not caused by an allergy. In addition, fungus and bacteria don’t cause this rash. Thus ,Viral infection is suspected.

In most cases, the rash heals on its own within 1-2 months, although it can persist for up to three months or longer in some cases. While you wait for the rash to disappear, the itchy skin can be soothed using over-the-counter treatments and home remedies


3. Seasonal affective disorder


Changes in season can lead to Seasonal affective disorder(SAD) which is a type of depression. SAD begins and ends at about the same times every year. For most people having SAD, the symptoms start in the fall and continue into the winter months, sapping your energy and making you feel moody. These symptoms often resolve during the spring and summer months. Less often, SAD causes depression in the spring or early summer and resolves during the fall or winter months.


Cause :

  • Decreased amount of sunlight in fall and winter. The decrease sunlight level may disrupt your body’s internal clock and lead to depression

  • A drop in serotonin levels


Symptoms:


  • Feeling listless, sad or down most of the day, nearly every day

  • Losing interest in activities you once enjoyed

  • Having low energy and feeling sluggish

  • Having problems with sleeping too much

  • Experiencing carbohydrate cravings, overeating and weight gain

  • Having difficulty concentrating

  • Feeling hopeless, worthless or guilty

  • Having thoughts of not wanting to live

Diagnosis and treatment:

If you think you may be suffering from SAD, talk to your health care provider or a mental health specialist about your concerns. They may have you fill out specific questionnaires to determine if your symptoms meet the criteria for SAD.

To be diagnosed with SAD, a person must meet the following criteria:

  • They must have symptoms of major depression or the more specific symptoms listed above.

  • The depressive episodes must occur for at least 2 consecutive years during specific seasons (i.e., only during the winter months or the summer months). However, not all people with SAD experience symptoms every year.

  • The episodes must be much more frequent than other depressive episodes that the person may have had at other times of the year during their lifetime.


Treatment for SAD may include light therapy (phototherapy), psychotherapy and medications.



4. Nutcracker syndrome




Nutcracker syndrome is a rare vein compression disorder. It occurs when arteries squeeze the left renal (kidney) vein, commonly the abdominal aorta and superior mesenteric artery.

It can cause many symptoms in both children and adults, such as flank pain and blood in the urine.


Pathogenesis and symptoms



Nutcracker syndrome should not be confused with superior mesenteric artery syndrome (Wilkie syndrome) also a superior mesenteric artery compression disorder, where the SMA compresses the third part of the duodenum (the two conditions, however, may be associated).


The name derives from the fact that, a nutcracker crushing a nut(the renal vein) can be visualized(with some imagination) n seeing the superior mesenteric artery and abdominal artery in sagittal plane and/or transverse plane Furthermore, there is a blockage in the venous return from the left gonadal vein returning to the left renal vein, thus causing testicular pain (colloquially referred to as "nut pain").



Compression of the left renal vein can occur primarily in two anatomic locations :

  • anterior nutcracker syndrome (classical): occurs at the branching of the SMA off of the

  • aorta posterior nutcracker syndrome (rarer form): a retro-aortic left renal vein is compressed between the aorta and vertebral rarely, a combination form may occur

Possible complications of unmanaged nutcracker syndrome include:

  • Blood clots in your renal vein.

  • Kidney damage caused by increased pressure in your renal veins over time.

  • Male infertility or female infertility


Treatment


Treatment should be started strictly when it is causing symptoms (hematuria and left flank pain). Surgical treatment modalities have their inherent complications and should be contemplated only when strongly indicated. A few of the reported surgical choices are:


  • left renal vein transposition

  • kidney autotransplant

  • superior mesenteric artery transposition gonadal vein transposition

  • nephrectomy

  • extravascular stent placement



 

These were 4 Christmas related diseases for the festive season.

Hope you enjoyed today's post.


Merry Christmas,

GCMER Team.

.

.

.

Hey, have you ever heard of holiday heart syndrome?

Let us know in the comments if you've heard of it.


READ FURTHER:

  1. https://www.hemophilia.org/bleeding-disorders-a-z/types/hemophilia-b

  2. https://www.cdc.gov/ncbddd/hemophilia/research.html

  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878259/

  4. www.upmc.com

  5. www.Radiopaedia.org

  6. Www.mayoclinic.org

  7. www.healthline.com

  8. www.nweyes.com

  9. www.aao.org

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