Fabry Disease: A Case Study

No scalp lesions. Dry eyes with conjunctival injection. Mild exophthalmos. Dry nasal mucosa. Marked cracking and bleeding of her lips with erosions of the mucosa. She has a large ulceration of the mucosa at the bite margin on the left. She has some scattered ulcerations on her hard and soft palette. She has difficulty opening her mouth because of pain. Tonsils not enlarged. No visible exudate. SKIN: She has some mild ecchymosis on her skin and some erythema, she has some patches but no obvious skin breakdown. She had some fissuring in the buttocks crease. PULMONARY: Clear to precussion and auscultation, bilaterally. CARDIOVASCULAR: No murmurs or gallops noted. ABDOMEN: Soft, non-tender, protuberant, no organomegaly, and positive bowel sounds. NORALOGIC EXAME: Cranial nerves ii – xii are grossly intact, diffuse hyporeflexia. MUSCULAR SKELETAL: Erosive destructive changes in elbows, wrist, and hands consistent with rheumatoid arthritis. Has had bilateral total knee replacements with stovepipe legs and perimalledal pitting edema 1+. I feel no pulse distally in either leg. PHYCIATRIC: Patient is a little anxious about these new symptoms and there significance. We discussed her situation and I offered her psychiatric services, she refused for now.

The patient is a 59-year-old right-handed white female who was admitted in June to Portsmouth Regional Hospital for what was determined to be either transient global amnesia or complicated migraine. I did review those notes. She was seen by Galina Simkin, MD. The symptomatology discussed in the H&P is consistent with transient global amnesia. She was having problems asking questions inappropriately, repeating sentences, repeating questions over and over again, and seeming somewhat confused. There were no other neurological symptoms at that time. No evidence for seizure activity. No evidence for stroke. She was brought to the emergency room, where she underwent a CAT scan, which was

She converses appropriately. Blood pressure 92/60 supine. Blood pressure decreased to 72/50 standing. Pulse is 90 and regular. Weight 113 pounds. She has a normal appearance of her face and does not have a masked appearance of her face. She has good strength throughout her face. She has good strength of her extremities. She has only minimal cogwheel rigidity at the left wrist, but no cogwheel rigidity at the right wrist. She has no tremor of her hands. She moves her extremities freely and with normal speed. She is able to rise on her own from a sitting to a standing position, only minimal bradykinesia of standing. She walks fairly freely and there is a normal cadence of her gait. She did not have dyskinetic movements of her extremities. She is able to walk, including turning without losing her balance. She does not shuffle her feet when walking. She does not have en bloc turning. She has good posture stability

A review of her medical record indicates that she has a history of functional decline, dementia, weakness, MRSA, cognitive communication deficit, presence of right artificial hip joint and HTN.

Childhood illnesses include measles, mumps, rubella, and chickenpox. She has fallen many times however, has never broken any bones. Serious traumas include three concussions. Has had many surgeries including tonsils removed, gastric bypass, right hip replacement, 2 bilateral knee surgeries, cataracts removed, back surgery and is waiting for shoulders to be replaced. Reports sinus infections in the spring and fall due to pollen and mold. These symptoms are similar to the ones she is experiencing now. Several years ago, she traveled around the world for 7 months and was in England for the Mad Cow Disease outbreak.

What is the most likely causative agent and what type of disease manifestation does this patient have?

She was referred to, see a neurology doctor. Client reported she is currently seeing Dr. Lempert/Neurology.

This is an up dated review of the disease, manifestations, and potential treatment options available.

They give a long list of diagnoses but the most prevalent is the fact that she has a rapidly progressing dementia. Note that she has a rapidly progressing dementia as well as a B12 deficiency. They describe a subdural hematoma in the CT scan reports. The one on 01/03 shows a lot of microvascular changes, a lot of cortical atrophy, and apparently, she had bilateral subdural hematomas that had converted to hygromas, but apparently the larger one on the left side still had some blood in it. When they repeated the CT scan of the head on 01/19, they commented that the hygromas were still present but there was less blood in the larger subdural. She had extensive blood testing, which basically was unremarkable. It did not appear that she had a urinary tract infection. Appears that since she has been here her status has been fairly stable. She was weak, but apparently, underwent physical therapy and made some improvement to where she became ambulatory in her gait. It looked like from the very beginning she was having a day/night confusion, was having a lot of un purposeful movements that might be have been contributed to either delusions or hallucinations. They gave her some Risperdal for the behavioral problems, but according to Cynthia she had taken Risperdal in the past and had an allergic reaction, and today when I have seen the patient there is a marked amount of periorbital edema

Mia is being diagnosed with Myoclonic epilepsy with ragged-red fibers (MERRF syndrome). This a rare disorder that starts in childhood and takes a toll on the skeletal muscle as well as other body systems. I’m going to share with you Mia’s tests results starting with her blood test. Her blood tests came back as high lactate in blood, low pH, and no aChR antibodies present. Mia’s body is producing high lactic acid levels causing her muscle pain, this happens when there is a low amount of oxygen in the blood. Mia’s blood is acidic and this is interfering with the normal functioning of the cells and the body. With Mia’s muscle biopsy her tissues showed “ragged red fibers”. When the muscle tissue has red ragged fibers the muscles have mitochondrial

No history of skin disease. Skin is pink, dry, and void of bruising, rashes, or lesions. No recent hair loss; head is normocephalic. Pupils equally reactive to light; no history of glaucoma or cataracts. Ears are in normal alignment; no history of chronic infections, hearing loss, tinnitus, or discharge. Nose and sinus history includes clear nasal discharge “since last October”, and occasional nose bleeds; states she use to get nose bleeds often as a child. Mouth and throat are absent of lesions; no bleeding gums, sore throat, dysphagia, hoarseness, or altered taste. Neck is void of pain, swelling,

A five year old male child was admitted to the ER on complaints of burning sensations in his hands. Further examination on the child discovered that he had many inflamed spots (angiokeratomas) on his upper legs. The child’s paternal grandparents including his father are all normal. The child’s maternal grandfather had angiokeratomas and died at the age of 45 due to kidney and heart disease, while his maternal grandmother was normal. The five year old’s mother had some angiokeratomas. The patient is diagnosed with the rare Fabry disease also referred to as Anderson-Fabry disease.

The Li- Fraumeni syndrome (LFS) is a rare disease that increases the risk of developing several types of cancer, mainly in kids, and young adults. Major causes of the syndrome are changes in the tumor suppressor gene. What that means is a protein that stops the cells from growing and dividing too rapidly or in an uncontrolled way. There are a lot of symptoms for this disease but just to name a few there are acute leukemia, neoplasm of the lungs, breast, colon, and the adrenal cortex. 90% of people get leukemia, breast, colon, and adrenal cortex cancer.

Fabry disease is a condition caused by a genetic mutation. It is passed down (inherited) from a parent who carries the gene mutation for Fabry disease. The gene mutation changes an enzyme that breaks down a certain type of lipid, called globotriaosylceramide, and prevents it from breaking down the lipid. This causes excess lipids to build up in cells in certain organs of the body and the nervous system.

Fabry is a metabolic disease caused by a mutation in the GLA gene on the X chromosome and mostly only affects males, though female carriers can be affected (“Fabry Disease”). There are also rare cases of homozygous females. Mutations in the GLA gene causes misfolding in the protein, α-galactosidase A, which reduces its ability to act as an enzyme (“Fabry Disease”). The most common mutation is a change in a single amino acid in the protein sequence, which affects the interactions between different parts of the primary sequence and changes the overall folding. With reduced enzymatic activity, globotriaosylceramide does not get broken-down in the lysosomes and builds-up in cells and the blood stream (“Fabry Disease”). Cells shown to be affected include endothelial cells (cells lining the inside of blood vessels), epithelial cells, muscle cells, and ganglion cells (nerve cell clusters) (Mandava). Fabry Disease tends to affect 1 in every 40,000-60,000 males, and much fewer females (Desnick). Most males with classic Fabry show signs of onset in early childhood and adolescence. Initial symptoms are acroparesthesias (severe episodes of pain in the extremities), angiokeratomas (small, red lesions on the skin), hypohidrosis (reduced sweating), and ocular changes, mostly including opacities (Desnick). Proteinuria (excess proteins in the urine) tends to occur in the second decade of life, renal failure develops by third decade, and heart disease and risk of