Ehlers-Danlos Syndrome Type IV Case Study In the Maguire family, in the first generation, Bruce died at age 53 of a burst aorta (an aneurysm). He and his wife Martha had four children. Daughter Sheila bruises easily, as does her son Phil. Her brother Dan is healthy. Sister Shelley died from a ruptured uterus giving birth to son David. Brother Eric died at age 27 of a ruptured large intestine. For years the family thought that these symptoms and problems were unrelated, but a workup at a genetics clinic following Shelley's death led to the diagnosis of Ehlers-Danlos syndome type IV. Knowledge of the diagnosis will enable other family members to be tested for weakening in certain blood vessels that can precede aneurysm. Questions 6. Draw a pedigree of the Maguire family; obviously you would be hand-drawing it. Identify unnamed individuals with numbers. 7. What type of inheritance does Ehlers-Danlos Syndrome Type IV exhibit in this family? 8. Which family members should be screened for the tendency to develop aneurysms? 9. What does pleiotropic mean? 10. Why is Ehlers-Danlos syndrome considered to be pleiotropic?

Question

10-03-2025
Medicine

College

Ehlers-Danlos Syndrome Type IV Case Study In the Maguire family, in the first generation, Bruce died at age 53 of a burst aorta (an aneurysm). He and his wife Martha had four children. Daughter Sheila bruises easily, as does her son Phil. Her brother Dan is healthy. Sister Shelley died from a ruptured uterus giving birth to son David. Brother Eric died at age 27 of a ruptured large intestine. For years the family thought that these symptoms and problems were unrelated, but a workup at a genetics clinic following Shelley's death led to the diagnosis of Ehlers-Danlos syndome type IV. Knowledge of the diagnosis will enable other family members to be tested for weakening in certain blood vessels that can precede aneurysm. Questions 6. Draw a pedigree of the Maguire family; obviously you would be hand-drawing it. Identify unnamed individuals with numbers. 7. What type of inheritance does Ehlers-Danlos Syndrome Type IV exhibit in this family? 8. Which family members should be screened for the tendency to develop aneurysms? 9. What does pleiotropic mean? 10. Why is Ehlers-Danlos syndrome considered to be pleiotropic?

Answer :

Final answer:

Ehlers-Danlos Syndrome Type IV, also known as vascular EDS, is a genetic disorder characterized by fragile blood vessels and organs, leading to potentially life-threatening complications such as arterial aneurysms and ruptures. In the Maguire family, several members have experienced symptoms and complications related to EDS Type IV. The syndrome exhibits an autosomal dominant inheritance pattern, and family members who should be screened for the tendency to develop aneurysms include Sheila, Phil, and David. Pleiotropic refers to the phenomenon where a single gene mutation can cause multiple effects or symptoms in different parts of the body. Ehlers-Danlos syndrome is considered pleiotropic due to its impact on various organs and systems.

Explanation:

Ehlers-Danlos Syndrome Type IV Case Study

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body. EDS Type IV, also known as vascular EDS, is characterized by fragile blood vessels and organs, leading to potentially life-threatening complications such as arterial aneurysms and ruptures.

In the Maguire family, several members have experienced symptoms and complications related to EDS Type IV. Bruce, the father, died at age 53 from a burst aorta, which is an aneurysm. Shelley, one of the daughters, died from a ruptured uterus while giving birth. Eric, one of the sons, died at age 27 from a ruptured large intestine.

Daughter Sheila and her son Phil both bruise easily, indicating a potential connective tissue disorder. However, her brother Dan is healthy and does not exhibit any symptoms. Following Shelley's death, the family underwent a workup at a genetics clinic, which led to the diagnosis of EDS Type IV.

Pedigree of the Maguire Family:

1. Bruce (deceased at age 53, burst aorta)

2. Martha (wife of Bruce)

3. Sheila (daughter, bruises easily)

4. Phil (son of Sheila, bruises easily)

5. Dan (brother of Sheila, healthy)

6. Shelley (deceased, ruptured uterus giving birth)

7. David (son of Shelley)

8. Eric (deceased at age 27, ruptured large intestine)

Ehlers-Danlos Syndrome Type IV exhibits an autosomal dominant inheritance pattern in this family. This means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. The presence of affected individuals in multiple generations supports this mode of inheritance.

Family members who should be screened for the tendency to develop aneurysms include Sheila, Phil, and David, as they have exhibited symptoms or are at risk due to their familial connection to affected individuals. Screening can help identify any weakening in certain blood vessels that can precede aneurysm formation, allowing for early intervention and management.

Pleiotropic refers to the phenomenon where a single gene mutation can cause multiple effects or symptoms in different parts of the body. In the case of Ehlers-Danlos syndrome, it is considered pleiotropic because the mutation affects the connective tissues throughout the body, leading to a wide range of symptoms and complications.

Ehlers-Danlos syndrome is considered pleiotropic due to its impact on various organs and systems, including the blood vessels, skin, joints, and organs. The mutation in the gene responsible for EDS Type IV affects the production and structure of collagen, a key component of connective tissues. This disruption in collagen synthesis and structure can result in the characteristic features and complications of EDS Type IV.

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Ehlers-Danlos Syndrome Type IV Case Study

Pedigree of the Maguire Family:

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