Anannya Roy, Amity University Kolkata
Autosomal Recessive Gene Disorders are the type of Genetic Disorders that are expressed only when two mutant copies of a gene are present in the organism. Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS) is an example of one such disorder that affects the connective tissues of a person’s body. This disorder was not found among the Chinese Population until very recently when Doctors reported a Case in October 15th 2019. Caused due to a mutation in the PLOD1 (Procollagen lysine, 2-oxoglutarate 5-dioxygenase 1) gene.
The major symptoms of this disease include Kyphoscoliosis; a condition in which there is an abnormal curvature of the spine along the anterior-posterior as well as the lateral axis, Muscular Hypotonia(a very poor muscle tone) and Joint Hypermobility and Dislocation. Minor symptoms include easily BruisableStretchy Skin.
The 17 year old patient was admitted with the following symptoms-
- Severe Muscle Hypotonia,
- Joint Hypermobility
- Scoliosis
- Inguinal Hernia at the age of five years, which was closed by surgery.
- Presence of Atrophic scars on legs and back caused due to previous surgeries.
- High Blood Pressure, which exposed him to the risk of Arterial Rupture.
The Doctors took an Xray to evaluate Bone Morphology. Radiographic studies revealed Scoliosis in the spine, a copper beaten appearance in the skull and Osteopenia in hands. After the Genetic analysis was conducted, both the parents turned out to be heterozygous carriers for the mutant allele. The patient had inherited both mutant copies of the gene so the disorder was expressed in him. The Dominant form of the gene actually encoded for an enzyme called Lysyl Hydroxylase (LH) which was responsible for the hydroxylation of lysyl residue in xaa-lys-gly.Due to lack of a proper permanent cure, the patient was managed by regular evaluation of Musculoskeletal, Skin and Cardiovascular systems. Alfacalcidol was given for 12 months for improving bone mass and muscle strength. For weight loss (which was necessary for decreasing the blood pressure) a proper diet was prescribed. But the patient reported poor control of weight so from September 8th 2020 onwards he was given doses of Nifedipine. Recently the patient has reported improved physical strength and normal blood pressure. Scientists suggest that an early diagnosis of Kyphoscoliotic Ehlers-Danlos Syndrome-PLOD1 should be conducted on anyone who showed symptoms of Kyphoscoliosis, hypotonia, joint hypermobility and skin hyperextensibility. This research provides future insights on how to improve the treatment plans for those fighting this disease.
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Source: The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutationXiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia* https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01154-3
Awesome!