Dyskeratosis Congenita and Venous Thromboembolism Luis Zamora-Lopez

Dyskeratosis Congenita: A rare genetic form of bone marrow failure. Causes an inability to produce the adequate amount of bone marrow which leaves to a lack of blood cells.

Causes: Gene mutation has been the prominent cause for Dyskeratosis Congenita.

Diagnosis: Clinical evaluation. Detailed patient history. Identification of certain characteristic findings on the skin or mouth.

Symptoms: Lacy-looking rash on the face, neck, and chest. White patches in the mouth. Fingernails and toenails that are not shipped normally.

Treatment: There is no true consensus about treating patients with Dyskeratosis. Anabolic steroids and possible stem cell transplantation is possible but unlikely.

Venous Thromboembolism (VTE)

Venous Thromboembolism is a blood clot that starts in a vein. VTE is the third leading vascular diagnosis after heart attacks and strokes.

Two types include; Deep Vein Thrombosis (DVT) where a clot is in a deep vein, usually in the leg. Pulmonary Embolism (PE): occurs when a DVT clot breaks free from a vein wall, travels to the lungs and blocks some or all of the blood supply.

Cause: VT's form when something slows or changes in the flow of blood. Most common triggers for DVT and PE are surgery, cancer, immobilization and hospitalization. This is more common in older, more obese or overweight individuals.

Symptoms and Diagnosis: Leg pain or tenderness of the thigh or calf. Leg swelling, skin that feels warm to touch. Diagnosis: Blood work may be done initially, and a test which detects clotting activity. Ultrasound of the leg is most often used for DVT and a tomography, or CT scan, is often used for PE.

Treatment: Both DVT and PE are serious and life-threatening so immediate medical attention is needed. Early diagnosis and treatment can lead to a recovery, but long term complications occur. Treatment usually includes blood thinning medication and sometimes strong clot busters to break up the clots. Surgery is sometimes needed.

Sources: https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita https://rarediseases.org/rare-diseases/dyskeratosis-congenita/ http://www.worldthrombosisday.org/issue/vte/ http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/cardiology/venous-thromboembolism/


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