Dr Child's Casebook: Anatomy of a Diagnosis
When symptoms should be treated not separately but as a whole
Making sense of signs and symptoms. A patient presenting with a disparate array of ailments often finds their symptoms are treated separately, when they should be considered as a whole. One parent approached the Marfan Trust in desperation after circling endlessly on a carousel of doctors’ appointments for their tall bendy son.
Q: My 14-year-old son has aches and pains. He is growing up too fast, literally, and has reached 6 foot 5 inches tall. As well as aches and pains, he has heart palpitations that have been attributed to panic attacks. With his bendy limbs I’ve read of hypermobility and also Marfan syndrome.
A: Thank you for approaching us. I think your son needs to be tested for Marfan syndrome. Marfan syndrome is a connective tissue disorder. Put simply it means the whole body is stretchier than normal because it’s deficient in one elastic protein. This can lead to hypermobile limbs, dislocated lenses in the eyes but more dangerously, a ballooning aorta (the main artery that takes the blood from your heart to the rest of your body).
In 99% of cases, a genetic test can be used to confirm a diagnosis of Marfan syndrome. But it’s an expensive process, as the gene can mutate in more than 3,000 different ways. In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person’s medical and family history, by a geneticist familiar with this condition. Hence I have a few questions:
- I need your family history of height, and health problems of eyes, heart or skeleton.
- How tall is your son relative to you, his parents?
- Patients with Marfan syndrome may have positive thumb sign and wrist sign due to their long spidery fingers. Fold your thumb into the closed fist. This test is positive if the whole first digit of the thumb extends beyond the palm of the hand. To perform the wrist test, grip your wrist with your opposite hand, with thumb and fifth finger overlapping. If the whole first digit of the thumb overlaps the little finger, this represents a positive test. Both these signs suggest Marfan syndrome, but are not specific.
- Does your son have stretch marks on his back?
- Does he have hammer toes, flat feet, curve in the spine, protruding or indented chest?
I will also write to your GP to ask that he or she refer your son for an echocardiogram, and a referral to your regional genetic clinic. Based on the result of the echocardiogram, and detailed assessment, a geneticist can decide whether your child has Marfan syndrome or a similar overlapping condition. A DNA test may be arranged to confirm the diagnosis.
Remember all aspect of the syndrome are treatable.
Head to our Marfan Awareness Month 2022 page to find out more