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Digestive system in the human body needs several important enzymes that break down the eaten foods into their basic ingredients. Similarly, when a specific type of enzyme called lysosomal acid lipase, that is essential for breaking fat in the foods are lacking in the digestive system, the fat turns into toxic chemicals harmful for the body, and then deposits in the cells and tissues. These fatty deposits contain oil, cholesterol and waxes, which create many adverse effects in the body including in several organs. This is when Acid Lipase Disease or Lysosomal Acid Lipase Deficiency occurs.

Acid Lipase disease or Lysosomal acid lipase deficiency (LAL deficiency) occurs when the body doesn’t create enough lysosomal acid lipase enzymes. Infants, children, and adults are equally susceptible to this disease. Acid Lipase Disease or Lysosomal Acid Lipase Deficiency may cause a number of problems in the body as fatty materials are stored in the major organs like liver, spleen, blood vessels, etc.

There are two categories of Acid Lipase Disease or Lysosomal Acid Lipase Deficiency known to the medical practitioners

• Wolman’s Disease: It is a rare genetic disorder in which the genetic mutations that causes Acid Lipase Disease or Lysosomal Acid Lipase Deficiency. The symptoms of this disease are generally apparent shortly after birth. Wolman’s disease is caused due to mutations in the LAL genes. This is inherited from the ancestors as an autosomal recessive trait.
• Cholesteryl Ester Storage Disease (CESD): It is also a rare genetic disorder in which the digestive system does not supply lysosomal acid lipase in sufficient quantities. In many patients, CESD is not detected till adulthood. This disease is also caused due to mutations in the LAL genes, which is inherited from the ancestors as an autosomal recessive trait.

To understand the symptoms of Acid Lipase Disease or Lysosomal Acid Lipase Deficiency, it is necessary to understand the symptoms of Wolman’s disease and Cholesteryl ester Storage Disease.

• Symptoms of Wolman’s Disease: The symptoms in this form of Acid Lipase Disease or Lysosomal Acid Lipase Deficiency are visible within a few days or weeks of birth. Affected infants may have the following symptoms:
  • Bloating or swelling of the stomach.
  • Significant enlargement of liver and spleen.
  • Fibrosis of liver.
  • Accumulation of fluid in the abdominal cavity.
  • Persistent vomiting.
  • Frequent diarrhea and fatty stools.
  • Hardening of adrenal gland.
  • Lack of coordination of muscles.

If not treated in time, the symptoms worsen further leading to liver dysfunction, lower levels of RBCs in the blood, and several other life threatening issues.

• Symptoms of Cholesteryl Ester Storage Disease: The symptoms of cholesteryl ester storage disease vary widely. Some patients develop symptoms of CESD in early childhood, and others may have few undetectable symptoms in childhood. The later cases remain undiagnosed till adulthood. Following are the major symptoms of CESD:
  • Abnormal fat deposits in many organs.
  • Fatty lever.
  • Abnormal blood lipoprotein profile.
  • Hepatomegaly leading to fibrosis of liver.
  • Hardening of adrenal gland.

In Acid Lipase Disease or Lysosomal Acid Lipase Deficiency, the liver function gets severely damaged if not diagnosed or treated in time.

Acid Lipase Disease or Lysosomal Acid Lipase Deficiency affects males and females alike. Till today, the disease is considered very rare one; however, the researchers think that perfect records are not available. Prevalence of CESD and Wolman’s disease is estimated at 1 in 40000.

It is necessary to understand the prognosis of acid lipase disease in its two different forms of the disease:

• Wolman’s Disease: This is a rare disease characterized by autosomal recessive disorder. It leads to diseases like jaundice, enlarged liver, anemia, problems in GI tract, etc.
• Cholesteryl Ester Storage Disease: This is exceptionally rare and often known as another form of Wolman’s disease. If remained undetected it may lead to jaundice, enlargement of liver, several disorders in circulatory system, and hardening of adrenal gland.

Acid Lipase Disease or Lysosomal Acid Lipase Deficiency is caused due to mutations in the LIPA gene. This gene contains specific instructions for producing lysosomal acid lipase enzyme. Due to mutations, the gene loses that genetic instruction and the digestive system does not get the enzyme to digest fat present in a food. Thus, the disease occurs.

Diagnosis of Acid Lipase Disease or Lysosomal Acid Lipase Deficiency largely depends on the identification of characteristic symptoms. In newborn babies, Wolman’s disease is detected by observing and testing enlarged liver and different gastrointestinal problems. In adult people, CESD is initially suspected in the similar process. Later, the physician confirms the disease through clinical investigation, patient’s history, patient’s family history, and some specialized tests that detect the levels of lysosomal lipase acid in the body. For more confirmation, many doctors also undertake molecular genetic testing to detect mutations in the LIPA gene.

There is no one specific treatment for acid lipase disease. Certain drugs are given to support adrenal gland production. It is also essential that infants detected with Acid Lipase Disease or Lysosomal Acid Lipase Deficiency are fed intravenously. Doctors, often advise to follow certain diet chart and certain lifestyle to stay fit.

Several researches are still going on to develop newer and surer treatment procedures for Acid Lipase Disease or Lysosomal Acid Lipase Deficiency. Sebelipase alfa is now used to treat Acid Lipase Disease or Lysosomal Acid Lipase Deficiency. This is a recombinant form of lysosomal acid lipase enzyme. It is given once every week intravenously to the people having Acid Lipase Disease or Lysosomal Acid Lipase Deficiency at higher levels. For those patients with less severe case, it is administered once in every fortnight.

Gene therapy treatment for Acid Lipase Disease or Lysosomal Acid Lipase Deficiency is still underway with some significant development. In this process, the defective gene in a patient’s body is replaced by a normal gene to form the enzyme in the body.

The lumbar spine, or low back, is a remarkably well-engineered structure of interconnecting bones, joints, nerves, ligaments, and muscles all working together to provide support, strength, and flexibility. However, this complex structure also leaves the low back susceptible to injury and pain.

The low back supports the weight of the upper body and provides mobility for everyday motions such as bending and twisting. Muscles in the low back are responsible for flexing and rotating the hips while walking, as well as supporting the spinal column. Nerves in the low back supply sensation and power the muscles in the pelvis, legs, and feet.

Most acute low back pain results from injury to the muscles, ligaments, joints, or discs. The body also reacts to injury by mobilizing an inflammatory healing response. While inflammation sounds minor, it can cause severe pain.

There is a significant overlap of nerve supply to many of the discs, muscles, ligaments, and other spinal structures, and it can be difficult for the brain to accurately sense which is the cause of the pain. For example, a degenerated or torn lumbar disc can feel the same as a pulled muscle – both creating inflammation and painful muscle spasm in the same area. Muscles and ligaments heal rapidly, while a torn disc may or may not. The time course of pain helps determine the cause.

Images of Tailbone pain(1) & compressed spinal canal(2)

Types of Low Back Pain

There are many ways to categorize low back pain – two common types include

Mechanical pain. By far the most common cause of lower back pain, mechanical pain (axial pain) is pain primarily from the muscles, ligaments, joints (facet joints, sacroiliac joints), or bones in and around the spine. This type of pain tends to be localized to the lower back, buttocks, and sometimes the top of the legs. It is usually influenced by loading the spine and may feel different based on motion (forward/backward/twisting), activity, standing, sitting, or resting.

Radicular pain. This type of pain can occur if a spinal nerve root becomes impinged or inflamed. Radicular pain may follow a nerve root pattern or dermatome down into the buttock and/or leg. Its specific sensation is sharp, electric, burning-type pain and can be associated with numbness or weakness (sciatica). It is typically felt on only one side of the body.

There are many additional sources of pain, including claudication pain (from stenosis) myelopathic pain, neuropathic pain, deformity, tumors, infections, pain from inflammatory conditions (such as rheumatoid arthritis or ankylosing spondylitis), and pain that originates from another part of the body and presents in the lower back (such as kidney stones, or ulcerative colitis).

It is also possible for low back pain to develop with no definitive cause. When this happens, the primary focus is on treating the symptoms (rather than the cause of the symptoms) and the patient’s overall health.

For subacute and chronic lower back pain, a thorough diagnosis is important to lay the foundation for appropriate treatment and rehabilitation. Lower back pain treatment reduces the likelihood of recurrent back pain flare-ups and helps prevent the development of chronic lower back pain.

Treatments:

1. Lumbar surgeries
2. Lumbar decompression surgeries

A decompression surgery removes whatever is pressing on a nerve root from the spinal column, which might include a herniated portion of a disc or a bone spur. There are two primary types of decompression for low back pain.

• Microdiscectomy is a minimally invasive procedure for patients with a lumbar herniated disc causing radicular leg pain (sciatica).
• Laminectomy removes part of the layer of the bone or soft tissue that is compressing a nerve or multiple nerve roots. A laminectomy will typically be performed for someone with leg pain and/or weakness from spinal stenosis caused by changes in the facet joints, discs, or bone spurs.

A decompression surgery can be performed with open or minimally invasive techniques with relatively small incisions, and minimal discomfort and recovery before returning to work or other activities. Most of these procedures are now being done as day surgery or with one overnight stay.

3. Fusion surgeries(lumbar spinal fusion)

Scleral buckling surgery is a common way to treat retinal detachment. It is a method of closing breaks and flattening the retina.

A scleral buckle is a piece of silicone sponge, rubber, or semi-hard plastic that your eye doctor (ophthalmologist) places on the outside of the eye(the sclera, or the white of the eye). The material is sewn to the eye to keep it in place. The buckling element is usually left in place permanently.

The element pushes in, or “buckles,” the sclera toward the middle of the eye. This buckling effect on the sclera relieves the pull (traction) on the retina, allowing the retinal tear to settle against the wall of the eye. The buckle effect may cover only the area behind the detachment, or it may encircle the eyeball like a ring.

By itself, the buckle does not prevent a retinal break from opening again. Usually extreme cold (cryopexy) or, less commonly, heat (diathermy) or light (laser photocoagulation) is used to scar the retina and hold it in place until a seal forms between the retina and the layer beneath it. The seal holds the layers of the eye together and keeps fluid from getting between them.

Other facts about the surgery

• The surgery takes place in an operating room, usually on an outpatient basis (you go home the same day).
• Local or general anesthesia may be used.
• Before the surgery, your eye doctor may patch both of your eyes and have you stay in bed to keep the detachment from spreading. Right before surgery, he or she will use eyedrops to dilate your pupils and may trim your eyelashes to keep them out of the way.
• A first-time surgery usually lasts 1 to 2 hours. Repeat surgeries or more complex detachments may take longer.

You may have some pain for a few days after the surgery. Your eye may be swollen, red, or tender for several weeks. Your eye doctor may put drops in your eye that prevent infection and keep the pupil from opening wide (dilating) or closing (constricting). You may have to wear a patch over the eye for a day or more.

Contact your doctor right away if you notice any signs of complications after surgery, such as:

• Decreasing vision.
• Increasing pain.
• Increasing redness.
• Swelling around the eye.
• Any discharge from the eye.
• Any new floaters, flashes of light, or changes in your field of vision.

Scleral buckling is effective in supporting a tear, hole, or break in the retina that has caused the detachment. It is rarely helpful on its own when scar tissue tugging on the retina has caused the detachment (traction detachment).

Scleral buckling poses some short-term and long-term risks. Most of these complications do not happen very often. Risks include the following:

• The most common cause of failure in surgery for retinal detachment is a type of scarring on the retina, called proliferative vitreoretinopathy (PVR), that can cause the retina to detach again. PVR usually requires additional treatment, including vitrectomy surgery.
• Detachment of the choroid (a part of the tissue that forms the eyeball) or swelling in the retinal area may delay healing.
• The pressure of the scleral buckle can raise the fluid pressure inside the eyeball. People with glaucoma may have a higher risk of this complication.
• Bleeding in the eye can impair vision.
• The eye may become infected. You may need antibiotics and corticosteroids to reduce redness or discharge from the eye and treat the infection. Sometimes it is necessary to remove the buckling implant to treat the infection.
• The plastic or rubber of the buckling device may rub on other parts of the eye, move out of place, or become a site of infection. In some cases, the buckling device may need to be removed.

The surgery may also affect your vision in other ways:

• Since a scleral buckle pushes in on the eye, it can change the shape of the eye. Good vision depends on the shape of the eye. The change caused by a scleral buckle may cause a refractive error that can affect vision. Vision may change for several months after scleral buckling surgery. You should have a follow-up vision exam after about 6 months to check for vision changes. You may need glasses or contact lenses (or a new prescription) to correct the changes.
• The scleral buckle can affect the eye muscles and how well they control the movement of the eyes. This can lead to misaligned eyes (strabismus) and double vision (diplopia).