CREST Syndrome Misdiagnosis

CREST syndrome is related to antibodies that combat centromeres (regions of DNA chromosomes) like ones in the kidneys and lungs. Characterized as an autoimmune disease, the syndrome severely affects and attacks the body’s connective tissues, the skin, muscles, blood vessels, the digestive tract others parts and organs of the body. Additionally, CREST syndrome stands as an acronym for five chief features including: Calcinosis, Raynard’s syndrome, esophageal dysmotility, Sclerodactyly and Telangiectasia. These are not exclusive pathologies connected to CREST syndrome, rather there are more present related ones to the syndrome.

Symptoms of CREST Syndrome

CREST syndrome involves a host of symptoms depending to the pathology involved. Symptoms for Reynaud’s syndrome, for instance, include coldness, numbness in fingers and toes, and pain in different parts of the body. Additionally, CREST syndrome symptoms involve swelling in the face, hands, forearms, face and lower extremities. Typically, the skin around the aforementioned affected areas experiences roughness and thickness. As a result, extremities become difficult to move. Furthermore, muscles weaken and joints experience inflammation and stiffness. In effect, opening the mouth, bending fingers or using hands becomes increasingly difficult.

Other skin related symptoms from CREST syndrome includes red spots or lines and bumps, which is directly a feature of telangiectasias and calcinosis. Swelling of tiny blood vessels under the skin causes this effect. Bumps on the skin, on the other hand, grow as deposits of calcium develop under the skin. Bumps on the elbows, knees and fingers can be noticeably seen.

Furthermore, the syndrome includes numerous features that do not only target on one particular organ or system, but rather multiple systems and organs. Detrimental effects of CREST syndrome include heart failure, chest pain and abnormal heart rhythms, kidney failure, seizures, hypertension and heart failure.

Diagnoses of CREST Syndrome

Diagonosis of CREST syndrome initiates with a physical exam—usually followed by an anticentromere antibody blood test. People affected by system scleroderma do not have high levels of anticentromere antibodies, which makes the blood test extremely crucial. A biopsy may be conducted to further diagnose the condition.

Currently, a cure for CREST syndrome is not available. However, particular medications such as vasodilators may be utilized to open vessels in the finger and toes, as well as reducing coldness and numbness. Inflammation, swelling and pain may be treated with anti-inflammatory medications.

Common Misdiagnoses of CREST Syndrome

Due to the general symptoms CREST syndrome patients may feel such as indigestion and difficulty in swallowing, many misdiagnoses and delayed treatment as a result. CREST syndrome symptoms may be misdiagnosed with other conditions such as rheumatoid arthritis or gastrointestinal disorders.