Alkaptonuria and Arthritis

Alkaptonuria

Alkaptonuria- or it’s also known as the black urine disease is an extremely rare (inherited) condition that can greatly affect a person’s quality of life. This condition affects the body to fully break down two protein blocks (amino acid) called tyrosine and phenylalanine. This results in a build up of the chemical homogentisic acid in the body.

Symptoms-

Over the course of of just a few years, homogentisic acid will actually slowly build up in tissues throughout an individual’s body.

It can build up in any area with no way to find out where before the build up occurs, it also includes the cartilage, tendons, bones, nails, ears and heart. It stains the tissues dark which causes a wide range of problems.

Usually alkaptonuria is experienced by people over 30 years of age.

They tend to have lower back pain and stiffness, which is then followed by knee, hip and shoulder pain. These are also the early symptoms of osteoarthritis, which has made many confusion among treatments as doctors think the patient is describing osteoarthritis rather than alkaptonuria.

Many people develop brown or grey spots on the whites of their eyes.

Another sign found in many patients with alkaptonuria is thickening of ear cartilage. The cartilage can also look really blueish, grey or black. This is called ochronosis.

The earwax may be black or reddish-brown.

Muscles that are around lungs can get stiffened up which prevents chest expansion when breathing and lead to difficulty in breathing or shortness of breath.

Cause-

The gene involved in alkaptonuria is the HGD gene. This provides instructions for making an enzyme called homogentisate oxidase, which is needed to break down homogentisic acid.

You need to inherit two copies of the faulty HGD gene (one from each parent) to develop alkaptonuria. The chances of this are slim, which is why the condition is very rare.

The parents of a person with alkaptonuria will often only carry one copy of the faulty gene themselves, which means they will not have any signs or symptoms of the condition.

Treatments-

Alkaptonuria is a lifelong condition – as of now there's no specific treatment or cure for it. But that doesn’t mean the idea is completely dropped as there is still many teams and the medicine company trying to find a treatment for it.

However, there is a medicine called nitisinone which has surprisingly shown some promise, and painkillers and lifestyle changes may help one to cope with the symptoms.

If one is conditioned with the diagnoses in their childhood, it may be possible to slow down its progression by restricting protein in the diet, as this may reduce levels of tyrosine and phenylalanine in your body.

A low-protein diet can actually be useful with reducing the risk of many potential side effects when taking nitisinone for alkaptonuria during adulthood. Your doctor or dietitian can help one with this.

(This condition is so rare that there is no hard statistics on it to include in the blog.)

Arthritis

Arthritis- is basically the swelling of one or more than one joints, the common and usual symptoms for arthritis are joint pains and stiffness, which worsens as one gets older. Unlike alkaptonuria, arthritis is extremely common. So common that you could easily find people in your family suffering from it. There are two really common types of arthritis, which are osteoarthritis and rheumatoid arthritis.

Osteoarthritis causes cartilage — the hard, slippery tissue that covers the ends of bones where they form a joint — to break down. Rheumatoid arthritis is a disease in which the immune system attacks the joints, beginning with the lining of joints.

Symptoms-

The most common signs and symptoms of arthritis involve the joints. Depending on the type of arthritis, signs and symptoms may include:

Pain
Stiffness
Swelling
Redness
Decreased range of motion

Cause-

Arthritis may be caused byTrusted Source:

wear and tear of a joint from overuse
age (most common in adults over age 50)
injuries
obesity
autoimmune disorders
genes or family history
muscle weakness

Treatment-

Medication: Anti-inflammatory and pain medications may help relieve your arthritis symptoms. Some medications, called biologics, target your immune system’s inflammatory response. A healthcare provider may recommend biologics for your rheumatoid or psoriatic arthritis.

Physical therapy: Rehabilitation can help improve strength, range of motion and overall mobility. Therapists can teach you how to adjust your daily activities to lessen arthritic pain.

Therapeutic injections: Cortisone shots may help temporarily relieve pain and inflammation in your joints. Arthritis in certain joints, such as your knee, may improve with a treatment called viscosupplementation. It injects lubricant to help joints move smoothly.

Age statistics for arthritis-