Have you ever noticed tiny changes in your nails that seem unusual, like ridges, discoloration, or even missing nails? What if these little signs were connected to something much bigger happening inside your body?
That’s exactly the case with Nail-Patella Syndrome (NPS), a rare genetic condition that doesn’t just affect your nails but can also impact your knees, elbows, kidneys, and even your eyes.
In this blog, we’ll dive into what Nail-Patella Syndrome really is, its unique symptoms, causes, and how it can be managed.
What Causes Nail Patella Syndrome?
The root cause of NPS is a single gene called LMX1B, which carries information for dorsal limb development, eye structures, and the specialised kidney cells, as per Spandidos Publications.
When LMX1B doesn’t work correctly, nails and skeletal elements develop differently and affect the growth and health of the nail, bone, kidney and eyes.
Nail Patella Syndrome Features
The hallmark features of NPS come in a set of four affecting nails, patellae (kneecaps), elbows, and pelvis as follows:
- Nails: Absent, small, split, thin, or with longitudinal ridges (thumbs are usually most affected).
- Patellae (kneecaps): Small, oddly shaped, unstable or absent.
- Elbows: Limited extension or pronation/supination issues.
- Pelvis: Presence of pathognomonic iliac horns. Cone-shaped, posterolateral bony projections are seen on pelvic imaging.
Symptoms of Nail Patella Syndrome
The clinical tetrad (set of four) features can lead to the multiple symptoms of nail patella syndrome as follows:
- Musculoskeletal pain, stiffness in the joints, and discomfort in the lower back or hip.
- A tight Achilles tendon that forces you to do toe-walking for comfort.
- Kidneys release excess protein in the urine (proteinuria) that may advance to more serious kidney disease.
- Eyes are at risk of open-angle glaucoma, a condition in which the fluid in the eye does not drain properly, silently diminishing eyesight, blurry vision.
Also, as per MedlinePlus Genetics, individuals with nail-patella syndrome may have skeletal issues involving the knees, elbows, and hips, with iliac horns being a common distinguishing feature.
Diagnosis Process
Doctors use multiple diagnostic techniques to check the presence of this condition. Usually, it involves a combination of:
- Physical examination of nail and joint findings.
- Family history is a big indicator of inheritance.
- Imaging through nail patella syndrome radiology can help identify iliac horns and patellar hypoplasia, characteristic of this condition.
- Genetic testing for LMX1B can be the best confirmatory test for NPS.
How is Nail Patella Syndrome Inherited?
This hereditary condition follows an autosomal dominant pattern, meaning that only one copy of the LMX1B gene is sufficient to cause the condition.
Having NPS can be a cause of concern for parents, as they have a 50% chance of passing it on to their children. It’s been reported that about 90% of people affected by this condition had at least one parent already having it, NORD.
However, the severity can differ significantly from person to person, even within the same family, and genetic counselling can help support family planning conversations.
How to Manage Your Health With NPS
This syndrome is incurable, but proactive care can help improve the quality of life and make a massive difference in the individual’s health. The care tips for it include:
- Physiotherapy can help strengthen joints and support better mobility. In cases of knee issues, bracing can be helpful.
- Surgery can help manage bone abnormalities.
- Routine tests for kidney health, including urine analysis for protein, and blood pressure monitoring can offer timely diet and lifestyle modifications or suggest kidney transplantation.
- Periodic eye screening for open-angle glaucoma can prevent eye issues.
Read More: The Curious Case of Blue Nails
To Sum Up
Nail-patella syndrome is a rare genetic condition that is primarily inherited with recognisable patterns, such as those affecting the nails, knees, elbows, and pelvic X-rays. If you or your child experiences unusual nail changes, along with knee or elbow issues, it is essential to consult your healthcare provider about NPS. Early diagnosis enables you to maintain a close, informed watch on your kidneys and eyes while proactively managing joint health.
