P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Authors: Salva Hazal , Yavuz Dilek Gogas 
Published: January 2025

Introduction

Ehler-Danlos syndrome (EDS) is a genetic disorder that affects connective tissues, including the skin, joints, and blood vessel walls. EDS can be accompanied by postural tachycardia syndrome, acid reflux, mast cell activation disorder, migraine, or early disc degeneration. We present a case with EDS associated with hypophosphatasia, a genetically defined fatty acid deficiency, and mastocytosis.

Clinical Case

A 27-year-old male visited an endocrinology clinic with a complaint of low libido that started six months ago. He was diagnosed with hypothyroidism, celiac disease, and testicular torsion at the age of 13. He was also diagnosed with autosomal dominant hypophosphatasia (ALPL heterozygous mutation) at the same age, following spontaneous tooth loss. He had no prior history of bone fractures. He did not get any medications to address hypophosphatasia. He had no family history of any disorder. He was diagnosed with EDS at the age of 22. He had mandible, patella, and shoulder dislocations as a result of joint hypermobility. He began to experience symptoms of hypoglycemia after the diagnosis of EDS. His blood glucose levels were about 52 mg/dL. Hyperinsulinism was excluded and genetic analysis resulted as a heterozygous mutation in the medium chain acylcoa dehydrogenase gene. The recommendations were L-Carnitine, Coenzyme Q, and Omega-3. Attacks of hypoglycemia became exceedingly uncommon. Since infancy, he had suffered from urticaria. His multiple allergies, elevated tryptase levels (35 and 22 ng/ml), and positive blood c-kit (CD117) mutation suggested mastocytosis. Omalizumab was implemented to alleviate urticarial symptoms. The patient underwent an evaluation for his premature ejaculation, low libido, and reduced hair growth. The testicular measure was normal. Gynecomastia and onychoid structure were not present.

Hypogonadotropic hypogonadism was detected during the evaluation. The following hormone levels were: follicle-stimulating hormone: 1.9 mIU/ml (1.5-12), luteinizing hormone: 3.8 mIU/ml (1.2-7.8), total testosterone: 2.5 ng/ml (3-10), estradiol: 11.8 pg/ml (10-50), dehydroepiandrosterone sulfate: 437 ug/dl (18-391), and progesterone: 0.13 ng/ml (0.27-0.9). Subcutaneous choriogonadotropin-alpha was implemented as a substitute for androgens after the occurrence of urticaria in response to intramuscular and transdermal testosterone treatment. The femur neck bone mineral density (BMD) was 0.749 (Z score: 1.3), whereas the L1-L4 vertebra BMD was 0.977 (Z score: 1.0). No pathology was detected in the echocardiogram.

We assessed the patient's osteogenesis imperfecta (OI) Type 1 or Type 2 due to the coexistence of EDS Type 7A and Type 7B. However, no known mutation for OI was identified.

Conclusion

Due to the overlapping clinical features of muscle hypotonia and joint complaints, as well as early tooth loss, these two diagnoses may be disregarded in a patient. Enzyme replacement therapy may alleviate symptoms in patients with these conditions.